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<meta name="description" content="DEPDC5 loss-of-function mutations were found in 13% of the families with a presentation of ADNFLE. The rate of drug resistance was high in patients with DEPDC5 mutations. Small ADNFLE pedigrees with DEPDC5 mutations might actually represent a part of the broader familial focal epilepsy with variable …"><meta name="keywords" content="pmid:24814846, doi:10.1212/WNL.0000000000000488, Research Support, Non-U.S. Gov't, Fabienne Picard, Periklis Makrythanasis, Stéphanie Baulac, Adolescent, Adult, Aged, Child, Child, Preschool, Chromosomes, Human, Pair 22 / genetics, Drug Resistance / genetics, Epilepsy, Frontal Lobe / genetics, Europe, Exome / genetics, Female, GTPase-Activating Proteins, Humans, Male, Middle Aged, Mutation / genetics*, Pedigree, Phenotype, Repressor Proteins / genetics*, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/24814846/"><meta property="og:description" content="DEPDC5 loss-of-function mutations were found in 13% of the families with a presentation of ADNFLE. The rate of drug resistance was high in patients with DEPDC5 mutations. Small ADNFLE pedigrees with DEPDC5 mutations might actually represent a part of the broader familial focal epilepsy with variable …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/24814846/"><meta name="twitter:description" content="DEPDC5 loss-of-function mutations were found in 13% of the families with a presentation of ADNFLE. The rate of drug resistance was high in patients with DEPDC5 mutations. Small ADNFLE pedigrees with DEPDC5 mutations might actually represent a part of the broader familial focal epilepsy with variable …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F24814846%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F24814846%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 24814846 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 24814846"/>
|
||
<input type="hidden" name="email-subject-hash" value="9f12c197034b4611ca2f35483e95e93e3d5dfde94668fc45f1e3d94bc5c792b7"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="24814846">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://www.neurology.org/doi/10.1212/WNL.0000000000000488?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub 0pubmed"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=4487&itool=Abstract-def&log$=linkouticon&uid=24814846&db=pubmed&nlmid=0401060"
|
||
title="See full text options at Atypon"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Atypon"
|
||
data-ga-label="24814846"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.neurology.org-pb-assets-pubmed-images-wnl-pubmed-icon.gif" alt="Atypon full text link"><span class="text">
|
||
|
||
Atypon
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/24814846/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/24814846/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="24814846" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F24814846%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="N0xsHbW2ElcXBnWFAqZVwXOx60d3OwGo4Nhxk1poeWZrvO2vdJCX05kbE4VfH7eI"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
<div class="social-sharing">
|
||
<h3 class="title">
|
||
Share
|
||
</h3>
|
||
<ul class="social-sharing-links usa-unstyled-list">
|
||
|
||
|
||
<li>
|
||
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2014 Jun 10;82(23):2101-6.</span>
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
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data-ga-label="Fabienne Picard">Fabienne Picard</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Periklis Makrythanasis">Periklis Makrythanasis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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|
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data-ga-label="Saeko Ishida">Saeko Ishida</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=de+Bellescize+J&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-label="Julitta de Bellescize">Julitta de Bellescize</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ville+D&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Dorothée Ville">Dorothée Ville</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Weckhuysen+S&cauthor_id=24814846"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-label="Sarah Weckhuysen">Sarah Weckhuysen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fosselle+E&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-label="Erwin Fosselle">Erwin Fosselle</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Suls+A&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-label="Arvid Suls">Arvid Suls</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=De+Jonghe+P&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-label="Peter De Jonghe">Peter De Jonghe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Vasselon+Raina+M&cauthor_id=24814846"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-label="Maryline Vasselon Raina">Maryline Vasselon Raina</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lesca+G&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Gaetan Lesca">Gaetan Lesca</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Depienne+C&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-label="Christel Depienne">Christel Depienne</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=An-Gourfinkel+I&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Isabelle An-Gourfinkel">Isabelle An-Gourfinkel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Vlaicu+M&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-label="Mihaela Vlaicu">Mihaela Vlaicu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Baulac+M&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-label="Michel Baulac">Michel Baulac</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mundwiller+E&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-label="Emeline Mundwiller">Emeline Mundwiller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Couarch+P&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-label="Philippe Couarch">Philippe Couarch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Combi+R&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
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data-ga-label="Romina Combi">Romina Combi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Ferini-Strambi+L&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-category="search"
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|
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data-ga-label="Luigi Ferini-Strambi">Luigi Ferini-Strambi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Gambardella+A&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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|
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data-ga-label="Antonio Gambardella">Antonio Gambardella</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Antonarakis+SE&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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|
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data-ga-label="Stylianos E Antonarakis">Stylianos E Antonarakis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Leguern+E&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
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data-ga-category="search"
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|
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data-ga-label="Eric Leguern">Eric Leguern</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Steinlein+O&cauthor_id=24814846"
|
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|
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data-ga-category="search"
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data-ga-label="Ortrud Steinlein">Ortrud Steinlein</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Baulac+S&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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|
||
data-ga-label="Stéphanie Baulac">Stéphanie Baulac</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
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1
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><sup class="key">1</sup> From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge</li>
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PMID:
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<strong class="current-id" title="PubMed ID">24814846</strong>
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ref="linksrc=article_id_link&article_id=10.1212/WNL.0000000000000488&id_type=DOI"
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href="https://doi.org/10.1212/wnl.0000000000000488"
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10.1212/WNL.0000000000000488
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<h1 class="heading-title">
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
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<span class="authors-list-item "><span class="full-name">Fabienne Picard</span><span class="citation-separator"> et al.</span></span>
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<span class="citation-journal">
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Neurology<span class="citation-separator">.</span>
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<span class="date">
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<time class="citation-year" datetime="2014">2014</time><span class="citation-separator">.</span>
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2014 Jun 10;82(23):2101-6.</span>
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data-ga-label="Fabienne Picard">Fabienne Picard</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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data-ga-label="Periklis Makrythanasis">Periklis Makrythanasis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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1
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1
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1
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1
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|
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data-ga-label="Sarah Weckhuysen">Sarah Weckhuysen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Fosselle+E&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-label="Erwin Fosselle">Erwin Fosselle</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Suls+A&cauthor_id=24814846"
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-label="Arvid Suls">Arvid Suls</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=De+Jonghe+P&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-label="Peter De Jonghe">Peter De Jonghe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Vasselon+Raina+M&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-label="Maryline Vasselon Raina">Maryline Vasselon Raina</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lesca+G&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
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data-ga-label="Gaetan Lesca">Gaetan Lesca</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Depienne+C&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
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data-ga-label="Christel Depienne">Christel Depienne</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=An-Gourfinkel+I&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
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data-ga-label="Isabelle An-Gourfinkel">Isabelle An-Gourfinkel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Vlaicu+M&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Mihaela Vlaicu">Mihaela Vlaicu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Baulac+M&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-label="Michel Baulac">Michel Baulac</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Mundwiller+E&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Emeline Mundwiller">Emeline Mundwiller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Couarch+P&cauthor_id=24814846"
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-label="Philippe Couarch">Philippe Couarch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Combi+R&cauthor_id=24814846"
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Romina Combi">Romina Combi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Ferini-Strambi+L&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Luigi Ferini-Strambi">Luigi Ferini-Strambi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gambardella+A&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-label="Antonio Gambardella">Antonio Gambardella</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Antonarakis+SE&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Stylianos E Antonarakis">Stylianos E Antonarakis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Leguern+E&cauthor_id=24814846"
|
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Eric Leguern">Eric Leguern</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Steinlein+O&cauthor_id=24814846"
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data-ga-category="search"
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data-ga-label="Ortrud Steinlein">Ortrud Steinlein</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Baulac+S&cauthor_id=24814846"
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data-ga-label="Stéphanie Baulac">Stéphanie Baulac</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge" href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
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</a></sup></span>
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<h3 class="title">
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Affiliation
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<ul class="item-list">
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><sup class="key">1</sup> From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge</li>
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<span class="identifier pubmed">
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<span class="id-label">
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PMID:
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<strong class="current-id" title="PubMed ID">24814846</strong>
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DOI:
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ref="linksrc=article_id_link&article_id=10.1212/WNL.0000000000000488&id_type=DOI"
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10.1212/WNL.0000000000000488
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To study the prevalence of DEPDC5 mutations in a series of 30 small European families with a phenotype compatible with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
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Methods:
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Thirty unrelated families referred with ADNFLE were recruited in France, Italy, Germany, Belgium, and Norway. Whole-exome sequencing was performed in 10 probands and direct sequencing of the DEPDC5 coding sequence in 20 probands. Testing for nonsense-mediated messenger RNA decay (NMD) was performed in lymphoblastic cells.
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Results:
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Exome sequencing revealed a splice acceptor mutation (c.2355-2A>G) in DEPDC5 in the proband of a German family. In addition, 3 nonsense DEPDC5 mutations (p.Arg487*, p.Arg1087*, and p.Trp1369*) were detected in the probands of 2 French and one Belgian family. The nonsense mutations p.Arg487* and p.Arg1087* were targeted by NMD, leading to the degradation of the mutated transcripts. At the clinical level, 78% of the patients with DEPDC5 mutations were drug resistant.
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DEPDC5 loss-of-function mutations were found in 13% of the families with a presentation of ADNFLE. The rate of drug resistance was high in patients with DEPDC5 mutations. Small ADNFLE pedigrees with DEPDC5 mutations might actually represent a part of the broader familial focal epilepsy with variable foci phenotype.
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<p class="copyright" id="copyright">
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© 2014 American Academy of Neurology.
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|
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<span class="docsum-journal-citation full-journal-citation">Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.</span>
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||
<span class="docsum-journal-citation short-journal-citation">Prog Brain Res. 2014.</span>
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<span class="docsum-authors full-authors">Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF, Dibbens LM.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Scheffer IE, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Ann Neurol. 2014 May;75(5):782-7. doi: 10.1002/ana.24126. Epub 2014 Apr 14.</span>
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<span class="docsum-journal-citation short-journal-citation">Ann Neurol. 2014.</span>
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<span class="citation-part">PMID: <span class="docsum-pmid">24585383</span></span>
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Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.
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<span class="docsum-authors full-authors">Steinlein OK.</span>
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<span class="docsum-authors short-authors">Steinlein OK.</span>
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<span class="docsum-journal-citation full-journal-citation">Prog Brain Res. 2014;213:1-15. doi: 10.1016/B978-0-444-63326-2.00001-6.</span>
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<span class="docsum-journal-citation short-journal-citation">Prog Brain Res. 2014.</span>
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Aged"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Aged
|
||
</button><div id="keyword-actions-mesh-terms-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Aged"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Aged%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Aged%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Aged"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Aged">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Aged"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Aged">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Aged"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Aged"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child
|
||
</button><div id="keyword-actions-mesh-terms-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child, Preschool"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-4"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child, Preschool
|
||
</button><div id="keyword-actions-mesh-terms-4"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child, Preschool"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child, Preschool">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child%2C+Preschool"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child, Preschool">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child, Preschool"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Chromosomes, Human, Pair 22 / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-5"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Chromosomes, Human, Pair 22 / genetics
|
||
</button><div id="keyword-actions-mesh-terms-5"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Chromosomes, Human, Pair 22 / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Chromosomes%2C+Human%2C+Pair+22%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Chromosomes%2C+Human%2C+Pair+22%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Chromosomes, Human, Pair 22/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Chromosomes, Human, Pair 22 / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Chromosomes%2C+Human%2C+Pair+22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Chromosomes, Human, Pair 22 / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Chromosomes, Human, Pair 22/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Chromosomes, Human, Pair 22/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Drug Resistance / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Drug Resistance / genetics
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Drug Resistance / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Drug+Resistance%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Drug+Resistance%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Drug Resistance/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Drug Resistance / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Drug+Resistance"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Drug Resistance / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Drug Resistance/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Drug Resistance/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Epilepsy, Frontal Lobe / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Epilepsy, Frontal Lobe / genetics
|
||
</button><div id="keyword-actions-mesh-terms-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Epilepsy, Frontal Lobe / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Epilepsy%2C+Frontal+Lobe%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Epilepsy%2C+Frontal+Lobe%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Epilepsy, Frontal Lobe/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Epilepsy, Frontal Lobe / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Epilepsy%2C+Frontal+Lobe"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Epilepsy, Frontal Lobe / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Epilepsy, Frontal Lobe/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Epilepsy, Frontal Lobe/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Europe"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Europe
|
||
</button><div id="keyword-actions-mesh-terms-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Europe"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Europe%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Europe%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Europe"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Europe">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Europe"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Europe">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Europe"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Europe"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Exome / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Exome / genetics
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Exome / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Exome%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Exome%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Exome/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Exome / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Exome"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Exome / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Exome/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Exome/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Female"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-10"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Female
|
||
</button><div id="keyword-actions-mesh-terms-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Female">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Female">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Female"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword GTPase-Activating Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-11"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
GTPase-Activating Proteins
|
||
</button><div id="keyword-actions-mesh-terms-11"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword GTPase-Activating Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22GTPase-Activating+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22GTPase-Activating+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="GTPase-Activating Proteins"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="GTPase-Activating Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=GTPase-Activating+Proteins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="GTPase-Activating Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""GTPase-Activating Proteins"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""GTPase-Activating Proteins"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-12"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-12"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Humans">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Humans">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Humans"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Male"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-13"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Male
|
||
</button><div id="keyword-actions-mesh-terms-13"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Male">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Male">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Male"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Middle Aged"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-14"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Middle Aged
|
||
</button><div id="keyword-actions-mesh-terms-14"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Middle Aged"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Middle+Aged%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Middle+Aged%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Middle Aged"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Middle Aged">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Middle+Aged"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Middle Aged">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Middle Aged"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Middle Aged"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Mutation / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-15"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-15"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutation / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutation%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation/genetics"[MAJR]"
|
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data-ga-category="search"
|
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data-ga-action="mesh_term"
|
||
data-ga-label="Mutation / genetics*">
|
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Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutation / genetics*">
|
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Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
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role="button"
|
||
data-search-term=""Mutation/genetics"[MAJR]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""Mutation/genetics"[MAJR]"
|
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href="#">
|
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Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Pedigree"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-16"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Pedigree
|
||
</button><div id="keyword-actions-mesh-terms-16"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Pedigree"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Pedigree"[MeSH]"
|
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data-ga-category="search"
|
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data-ga-action="mesh_term"
|
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data-ga-label="Pedigree">
|
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Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Pedigree"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Pedigree">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
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role="button"
|
||
data-search-term=""Pedigree"[MeSH]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""Pedigree"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Phenotype"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-17"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-17"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Phenotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
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data-ga-action="mesh_term"
|
||
data-ga-label="Phenotype">
|
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Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Phenotype"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Phenotype">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Phenotype"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Repressor Proteins / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-18"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Repressor Proteins / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-18"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Repressor Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Repressor+Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Repressor+Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Repressor Proteins/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Repressor Proteins / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Repressor+Proteins"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Repressor Proteins / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Repressor Proteins/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Repressor Proteins/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword DEPDC5 protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
DEPDC5 protein, human
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword DEPDC5 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22DEPDC5+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22DEPDC5+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="DEPDC5 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="DEPDC5 protein, human">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22DEPDC5+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="DEPDC5 protein, human">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""DEPDC5 protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""DEPDC5 protein, human"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword GTPase-Activating Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
GTPase-Activating Proteins
|
||
</button><div id="keyword-actions-substances-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword GTPase-Activating Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22GTPase-Activating+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22GTPase-Activating+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="GTPase-Activating Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="GTPase-Activating Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22GTPase-Activating+Proteins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="GTPase-Activating Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""GTPase-Activating Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""GTPase-Activating Proteins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Repressor Proteins"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Repressor Proteins
|
||
</button><div id="keyword-actions-substances-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Repressor Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Repressor+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Repressor+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Repressor Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="Repressor Proteins">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Repressor+Proteins%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="Repressor Proteins">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Repressor Proteins"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Repressor Proteins"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="supplementary-concepts" class="supplementary-concepts keywords-section">
|
||
<h2 class="title">
|
||
Supplementary concepts
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Autosomal Dominant Nocturnal Frontal Lobe Epilepsy"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-supplementary-concepts-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
||
</button><div id="keyword-actions-supplementary-concepts-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Autosomal Dominant Nocturnal Frontal Lobe Epilepsy"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Autosomal+Dominant+Nocturnal+Frontal+Lobe+Epilepsy%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Autosomal+Dominant+Nocturnal+Frontal+Lobe+Epilepsy%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Autosomal Dominant Nocturnal Frontal Lobe Epilepsy"[nm]"
|
||
data-ga-category="search"
|
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data-ga-action="supplementary_concept"
|
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data-ga-label="Autosomal Dominant Nocturnal Frontal Lobe Epilepsy">
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Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Autosomal+Dominant+Nocturnal+Frontal+Lobe+Epilepsy"
|
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data-ga-category="search_mesh"
|
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data-ga-action="supplementary_concept_link"
|
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data-ga-label="Autosomal Dominant Nocturnal Frontal Lobe Epilepsy">
|
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Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
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