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<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="Op3J7xWuPtetcxuFyu9PS9mi59qbrXU65cNOKnpQp41X6YAvbNMRmhSWDd8nkysq">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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="Op3J7xWuPtetcxuFyu9PS9mi59qbrXU65cNOKnpQp41X6YAvbNMRmhSWDd8nkysq">
<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="Op3J7xWuPtetcxuFyu9PS9mi59qbrXU65cNOKnpQp41X6YAvbNMRmhSWDd8nkysq">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="Op3J7xWuPtetcxuFyu9PS9mi59qbrXU65cNOKnpQp41X6YAvbNMRmhSWDd8nkysq">
<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="Op3J7xWuPtetcxuFyu9PS9mi59qbrXU65cNOKnpQp41X6YAvbNMRmhSWDd8nkysq">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="29315614">
<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://doi.org/10.1111/epi.13986"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3058&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=29315614&amp;db=pubmed&amp;nlmid=2983306R"
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</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/29315614/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=29315614&amp;db=pubmed&amp;nlmid=2983306R"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
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Free PMC article
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</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="/29315614/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/29315614/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="29315614" 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%2F29315614%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="Op3J7xWuPtetcxuFyu9PS9mi59qbrXU65cNOKnpQp41X6YAvbNMRmhSWDd8nkysq"><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:
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<h1 class="heading-title">
Defining the phenotypic spectrum of SLC6A1 mutations
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31
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France." href="#full-view-affiliation-32" ref="linksrc=author_aff">
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31
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France." href="#full-view-affiliation-32" ref="linksrc=author_aff">
32
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33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Northwestern University Feinberg School of Medicine, Chicago, IL, USA." href="#full-view-affiliation-40" ref="linksrc=author_aff">
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25
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Neurology, The Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-35" ref="linksrc=author_aff">
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data-ga-label="Guido Rubboli">Guido Rubboli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Danish Epilepsy Center Filadelfia, Dianalund, Denmark." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University of Copenhagen, Copenhagen, Denmark." href="#full-view-affiliation-43" ref="linksrc=author_aff">
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15
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data-ga-label="Rikke S Møller">Rikke S Møller</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Danish Epilepsy Center Filadelfia, Dianalund, Denmark." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
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Affiliations
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<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Department of Child Neurology, Children&#x27;s Hospital, Helsinki University Hospital Helsinki, University of Helsinki, Helsinki, Finland.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland.</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Department of Pediatrics, Pediatric Neurology, University Hospital of Strasbourg, Strasbourg, France.</li>
<li data-affiliation-id="full-view-affiliation-7"
id="full-view-affiliation-7"
><sup class="key">7</sup> Reference Center for Rare Epilepsies, Strasbourg, France.</li>
<li data-affiliation-id="full-view-affiliation-8"
id="full-view-affiliation-8"
><sup class="key">8</sup> Department of Genetics, Center for Rare causes of Intellectual Disabilities and UPMC Research Group &quot;Intellectual Disabilities and Autism&quot;, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-9"
id="full-view-affiliation-9"
><sup class="key">9</sup> APHP, Genetic Services, Hospital Trousseau, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-10"
id="full-view-affiliation-10"
><sup class="key">10</sup> Departments of Genetics, Lyon University Hospitals, Lyon, France.</li>
<li data-affiliation-id="full-view-affiliation-11"
id="full-view-affiliation-11"
><sup class="key">11</sup> Claude Bernard Lyon I University, Lyon, France.</li>
<li data-affiliation-id="full-view-affiliation-12"
id="full-view-affiliation-12"
><sup class="key">12</sup> Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France.</li>
<li data-affiliation-id="full-view-affiliation-13"
id="full-view-affiliation-13"
><sup class="key">13</sup> Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France.</li>
<li data-affiliation-id="full-view-affiliation-14"
id="full-view-affiliation-14"
><sup class="key">14</sup> Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.</li>
<li data-affiliation-id="full-view-affiliation-15"
id="full-view-affiliation-15"
><sup class="key">15</sup> Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-16"
id="full-view-affiliation-16"
><sup class="key">16</sup> Boston Children&#x27;s Hospital, Boston, MA, USA.</li>
<li data-affiliation-id="full-view-affiliation-17"
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><sup class="key">17</sup> Harvard Medical School, Boston, MA, USA.</li>
<li data-affiliation-id="full-view-affiliation-18"
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><sup class="key">18</sup> Division of Genetics, Department of Pediatrics, Rady Children&#x27;s Hospital San Diego, University of California San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-19"
id="full-view-affiliation-19"
><sup class="key">19</sup> Division of Neurology, Rady Children&#x27;s Hospital, University of California, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-20"
id="full-view-affiliation-20"
><sup class="key">20</sup> Rady Children&#x27;s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-21"
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><sup class="key">21</sup> Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea.</li>
<li data-affiliation-id="full-view-affiliation-22"
id="full-view-affiliation-22"
><sup class="key">22</sup> Department of Pediatrics, Seoul National University Children&#x27;s Hospital, Seoul National University School of Medicine, Seoul, South Korea.</li>
<li data-affiliation-id="full-view-affiliation-23"
id="full-view-affiliation-23"
><sup class="key">23</sup> Pediatric Neurology, Gillette Children&#x27;s Specialty Healthcare, Burnsville, MN, USA.</li>
<li data-affiliation-id="full-view-affiliation-24"
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><sup class="key">24</sup> Children&#x27;s Minnesota, Minneapolis, MN, USA.</li>
<li data-affiliation-id="full-view-affiliation-25"
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><sup class="key">25</sup> Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.</li>
<li data-affiliation-id="full-view-affiliation-26"
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><sup class="key">26</sup> Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands.</li>
<li data-affiliation-id="full-view-affiliation-27"
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><sup class="key">27</sup> NYU Epilepsy Center, New York, NY, USA.</li>
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><sup class="key">28</sup> Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.</li>
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><sup class="key">29</sup> Neurology Unit, Department of Neuroscience, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-30"
id="full-view-affiliation-30"
><sup class="key">30</sup> Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany.</li>
<li data-affiliation-id="full-view-affiliation-31"
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><sup class="key">31</sup> Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-32"
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><sup class="key">32</sup> Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-33"
id="full-view-affiliation-33"
><sup class="key">33</sup> Assistance Publique-Hôpitaux de Paris, Neuropediatric Services, Hospital Armand Trousseau, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-34"
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><sup class="key">34</sup> Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.</li>
<li data-affiliation-id="full-view-affiliation-35"
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><sup class="key">35</sup> Division of Neurology, The Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA.</li>
<li data-affiliation-id="full-view-affiliation-36"
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><sup class="key">36</sup> Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.</li>
<li data-affiliation-id="full-view-affiliation-37"
id="full-view-affiliation-37"
><sup class="key">37</sup> Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-38"
id="full-view-affiliation-38"
><sup class="key">38</sup> Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology &amp; Neuroscience, King&#x27;s College London, London, UK.</li>
<li data-affiliation-id="full-view-affiliation-39"
id="full-view-affiliation-39"
><sup class="key">39</sup> Epilepsy Center and Division of Neurology, Ann &amp; Robert H. Lurie Children&#x27;s Hospital of Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="full-view-affiliation-40"
id="full-view-affiliation-40"
><sup class="key">40</sup> Northwestern University Feinberg School of Medicine, Chicago, IL, USA.</li>
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><sup class="key">41</sup> Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-42"
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><sup class="key">42</sup> Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa &#x27;G. Gaslini&quot; Institute, Genova, Italy.</li>
<li data-affiliation-id="full-view-affiliation-43"
id="full-view-affiliation-43"
><sup class="key">43</sup> University of Copenhagen, Copenhagen, Denmark.</li>
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Defining the phenotypic spectrum of SLC6A1 mutations
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<span class="authors-list-item "><span class="full-name">Katrine M Johannesen</span><span class="citation-separator">&nbsp;et al.</span></span>
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data-ga-label="Katrine M Johannesen">Katrine M Johannesen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Danish Epilepsy Center Filadelfia, Dianalund, Denmark." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark." href="#short-view-affiliation-2" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark." href="#short-view-affiliation-2" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland." href="#short-view-affiliation-5" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Reference Center for Rare Epilepsies, Strasbourg, France." href="#short-view-affiliation-7" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland." href="#short-view-affiliation-5" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Claude Bernard Lyon I University, Lyon, France." href="#short-view-affiliation-11" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France." href="#short-view-affiliation-12" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Reference Center for Rare Epilepsies, Strasbourg, France." href="#short-view-affiliation-7" ref="linksrc=author_aff">
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13
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France." href="#short-view-affiliation-14" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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13
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France." href="#short-view-affiliation-14" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Harvard Medical School, Boston, MA, USA." href="#short-view-affiliation-17" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Joseph G Gleeson">Joseph G Gleeson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rady Children&#x27;s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Yongjin Yoo">Yongjin Yoo</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Choi+M&amp;cauthor_id=29315614"
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data-ga-label="Murim Choi">Murim Choi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chae+JH&amp;cauthor_id=29315614"
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data-ga-label="Jong-Hee Chae">Jong-Hee Chae</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Seoul National University Children&#x27;s Hospital, Seoul National University School of Medicine, Seoul, South Korea." href="#short-view-affiliation-22" ref="linksrc=author_aff">
22
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Czapansky-Beilman+D&amp;cauthor_id=29315614"
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data-ga-label="Desiree Czapansky-Beilman">Desiree Czapansky-Beilman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Neurology, Gillette Children&#x27;s Specialty Healthcare, Burnsville, MN, USA." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Reichert+SC&amp;cauthor_id=29315614"
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data-ga-label="Sara Chadwick Reichert">Sara Chadwick Reichert</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Children&#x27;s Minnesota, Minneapolis, MN, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pendziwiat+M&amp;cauthor_id=29315614"
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data-ga-label="Manuela Pendziwiat">Manuela Pendziwiat</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany." href="#short-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Verhoeven+JS&amp;cauthor_id=29315614"
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data-ga-label="Judith S Verhoeven">Judith S Verhoeven</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands." href="#short-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schelhaas+HJ&amp;cauthor_id=29315614"
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data-ga-label="Helenius J Schelhaas">Helenius J Schelhaas</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands." href="#short-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Devinsky+O&amp;cauthor_id=29315614"
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data-ga-label="Orrin Devinsky">Orrin Devinsky</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NYU Epilepsy Center, New York, NY, USA." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Christensen+J&amp;cauthor_id=29315614"
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data-ga-label="Jakob Christensen">Jakob Christensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Aarhus University Hospital, Aarhus, Denmark." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Specchio+N&amp;cauthor_id=29315614"
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data-ga-label="Nicola Specchio">Nicola Specchio</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Neurology Unit, Department of Neuroscience, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Trivisano+M&amp;cauthor_id=29315614"
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data-ga-label="Marina Trivisano">Marina Trivisano</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Neurology Unit, Department of Neuroscience, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Weber+YG&amp;cauthor_id=29315614"
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data-ga-label="Yvonne G Weber">Yvonne G Weber</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany." href="#short-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nava+C&amp;cauthor_id=29315614"
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data-ga-label="Caroline Nava">Caroline Nava</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France." href="#short-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Keren+B&amp;cauthor_id=29315614"
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data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France." href="#short-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Doummar+D&amp;cauthor_id=29315614"
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data-ga-label="Diane Doummar">Diane Doummar</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Assistance Publique-Hôpitaux de Paris, Neuropediatric Services, Hospital Armand Trousseau, Paris, France." href="#short-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schaefer+E&amp;cauthor_id=29315614"
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data-ga-label="Elise Schaefer">Elise Schaefer</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France." href="#short-view-affiliation-34" ref="linksrc=author_aff">
34
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hopkins+S&amp;cauthor_id=29315614"
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data-ga-label="Sarah Hopkins">Sarah Hopkins</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Neurology, The Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dubbs+H&amp;cauthor_id=29315614"
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data-ga-label="Holly Dubbs">Holly Dubbs</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Shaw+JE&amp;cauthor_id=29315614"
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data-ga-label="Jessica E Shaw">Jessica E Shaw</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pisani+L&amp;cauthor_id=29315614"
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data-ga-label="Laura Pisani">Laura Pisani</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Myers+CT&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-label="Candace T Myers">Candace T Myers</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-15" ref="linksrc=author_aff">
15
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tang+S&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-label="Sha Tang">Sha Tang</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
37
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tang+S&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-label="Shan Tang">Shan Tang</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology &amp; Neuroscience, King&#x27;s College London, London, UK." href="#short-view-affiliation-38" ref="linksrc=author_aff">
38
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pal+DK&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Deb K Pal">Deb K Pal</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology &amp; Neuroscience, King&#x27;s College London, London, UK." href="#short-view-affiliation-38" ref="linksrc=author_aff">
38
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Millichap+JJ&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="John J Millichap">John J Millichap</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Epilepsy Center and Division of Neurology, Ann &amp; Robert H. Lurie Children&#x27;s Hospital of Chicago, Chicago, IL, USA." href="#short-view-affiliation-39" ref="linksrc=author_aff">
39
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Northwestern University Feinberg School of Medicine, Chicago, IL, USA." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Carvill+GL&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Gemma L Carvill">Gemma L Carvill</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Northwestern University Feinberg School of Medicine, Chicago, IL, USA." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Helbig+KL&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Kathrine L Helbig">Kathrine L Helbig</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
37
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mecarelli+O&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Oriano Mecarelli">Oriano Mecarelli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy." href="#short-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Striano+P&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Pasquale Striano">Pasquale Striano</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa &#x27;G. Gaslini&quot; Institute, Genova, Italy." href="#short-view-affiliation-42" ref="linksrc=author_aff">
42
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Helbig+I&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Ingo Helbig">Ingo Helbig</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany." href="#short-view-affiliation-25" ref="linksrc=author_aff">
25
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Neurology, The Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rubboli+G&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Guido Rubboli">Guido Rubboli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Danish Epilepsy Center Filadelfia, Dianalund, Denmark." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="University of Copenhagen, Copenhagen, Denmark." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mefford+HC&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Heather C Mefford">Heather C Mefford</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-15" ref="linksrc=author_aff">
15
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=M%C3%B8ller+RS&amp;cauthor_id=29315614"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Rikke S Møller">Rikke S Møller</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Danish Epilepsy Center Filadelfia, Dianalund, Denmark." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Department of Child Neurology, Children&#x27;s Hospital, Helsinki University Hospital Helsinki, University of Helsinki, Helsinki, Finland.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland.</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Department of Pediatrics, Pediatric Neurology, University Hospital of Strasbourg, Strasbourg, France.</li>
<li data-affiliation-id="short-view-affiliation-7"
id="short-view-affiliation-7"
><sup class="key">7</sup> Reference Center for Rare Epilepsies, Strasbourg, France.</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> Department of Genetics, Center for Rare causes of Intellectual Disabilities and UPMC Research Group &quot;Intellectual Disabilities and Autism&quot;, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> APHP, Genetic Services, Hospital Trousseau, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-10"
id="short-view-affiliation-10"
><sup class="key">10</sup> Departments of Genetics, Lyon University Hospitals, Lyon, France.</li>
<li data-affiliation-id="short-view-affiliation-11"
id="short-view-affiliation-11"
><sup class="key">11</sup> Claude Bernard Lyon I University, Lyon, France.</li>
<li data-affiliation-id="short-view-affiliation-12"
id="short-view-affiliation-12"
><sup class="key">12</sup> Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France.</li>
<li data-affiliation-id="short-view-affiliation-13"
id="short-view-affiliation-13"
><sup class="key">13</sup> Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France.</li>
<li data-affiliation-id="short-view-affiliation-14"
id="short-view-affiliation-14"
><sup class="key">14</sup> Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.</li>
<li data-affiliation-id="short-view-affiliation-15"
id="short-view-affiliation-15"
><sup class="key">15</sup> Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-16"
id="short-view-affiliation-16"
><sup class="key">16</sup> Boston Children&#x27;s Hospital, Boston, MA, USA.</li>
<li data-affiliation-id="short-view-affiliation-17"
id="short-view-affiliation-17"
><sup class="key">17</sup> Harvard Medical School, Boston, MA, USA.</li>
<li data-affiliation-id="short-view-affiliation-18"
id="short-view-affiliation-18"
><sup class="key">18</sup> Division of Genetics, Department of Pediatrics, Rady Children&#x27;s Hospital San Diego, University of California San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-19"
id="short-view-affiliation-19"
><sup class="key">19</sup> Division of Neurology, Rady Children&#x27;s Hospital, University of California, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-20"
id="short-view-affiliation-20"
><sup class="key">20</sup> Rady Children&#x27;s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-21"
id="short-view-affiliation-21"
><sup class="key">21</sup> Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea.</li>
<li data-affiliation-id="short-view-affiliation-22"
id="short-view-affiliation-22"
><sup class="key">22</sup> Department of Pediatrics, Seoul National University Children&#x27;s Hospital, Seoul National University School of Medicine, Seoul, South Korea.</li>
<li data-affiliation-id="short-view-affiliation-23"
id="short-view-affiliation-23"
><sup class="key">23</sup> Pediatric Neurology, Gillette Children&#x27;s Specialty Healthcare, Burnsville, MN, USA.</li>
<li data-affiliation-id="short-view-affiliation-24"
id="short-view-affiliation-24"
><sup class="key">24</sup> Children&#x27;s Minnesota, Minneapolis, MN, USA.</li>
<li data-affiliation-id="short-view-affiliation-25"
id="short-view-affiliation-25"
><sup class="key">25</sup> Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.</li>
<li data-affiliation-id="short-view-affiliation-26"
id="short-view-affiliation-26"
><sup class="key">26</sup> Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands.</li>
<li data-affiliation-id="short-view-affiliation-27"
id="short-view-affiliation-27"
><sup class="key">27</sup> NYU Epilepsy Center, New York, NY, USA.</li>
<li data-affiliation-id="short-view-affiliation-28"
id="short-view-affiliation-28"
><sup class="key">28</sup> Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.</li>
<li data-affiliation-id="short-view-affiliation-29"
id="short-view-affiliation-29"
><sup class="key">29</sup> Neurology Unit, Department of Neuroscience, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-30"
id="short-view-affiliation-30"
><sup class="key">30</sup> Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany.</li>
<li data-affiliation-id="short-view-affiliation-31"
id="short-view-affiliation-31"
><sup class="key">31</sup> Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-32"
id="short-view-affiliation-32"
><sup class="key">32</sup> Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-33"
id="short-view-affiliation-33"
><sup class="key">33</sup> Assistance Publique-Hôpitaux de Paris, Neuropediatric Services, Hospital Armand Trousseau, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-34"
id="short-view-affiliation-34"
><sup class="key">34</sup> Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.</li>
<li data-affiliation-id="short-view-affiliation-35"
id="short-view-affiliation-35"
><sup class="key">35</sup> Division of Neurology, The Children&#x27;s Hospital of Philadelphia, Philadelphia, PA, USA.</li>
<li data-affiliation-id="short-view-affiliation-36"
id="short-view-affiliation-36"
><sup class="key">36</sup> Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.</li>
<li data-affiliation-id="short-view-affiliation-37"
id="short-view-affiliation-37"
><sup class="key">37</sup> Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-38"
id="short-view-affiliation-38"
><sup class="key">38</sup> Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology &amp; Neuroscience, King&#x27;s College London, London, UK.</li>
<li data-affiliation-id="short-view-affiliation-39"
id="short-view-affiliation-39"
><sup class="key">39</sup> Epilepsy Center and Division of Neurology, Ann &amp; Robert H. Lurie Children&#x27;s Hospital of Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="short-view-affiliation-40"
id="short-view-affiliation-40"
><sup class="key">40</sup> Northwestern University Feinberg School of Medicine, Chicago, IL, USA.</li>
<li data-affiliation-id="short-view-affiliation-41"
id="short-view-affiliation-41"
><sup class="key">41</sup> Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-42"
id="short-view-affiliation-42"
><sup class="key">42</sup> Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa &#x27;G. Gaslini&quot; Institute, Genova, Italy.</li>
<li data-affiliation-id="short-view-affiliation-43"
id="short-view-affiliation-43"
><sup class="key">43</sup> University of Copenhagen, Copenhagen, Denmark.</li>
</ul>
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<strong class="current-id" title="PubMed ID">29315614</strong>
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<h2 class="title">
Abstract
</h2>
<div class="abstract-content selected"
id="eng-abstract">
<p>
<strong class="sub-title">
Objective:
</strong>
Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.
</p>
<p>
<strong class="sub-title">
Methods:
</strong>
We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.
</p>
<p>
<strong class="sub-title">
Results:
</strong>
Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).
</p>
<p>
<strong class="sub-title">
Significance:
</strong>
Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.
</p>
</div>
<p>
<strong class="sub-title">
Keywords:
</strong>
MAE; SLC6A1; epilepsy; epilepsy genetics.
</p>
</div>
<p class="copyright" id="copyright">
Wiley Periodicals, Inc. © 2018 International League Against Epilepsy.
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<div class="conflict-of-interest" id="conflict-of-interest">
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Conflict of interest statement
</h2>
<div class="statement">
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one"><bold>DISCLOSURE OF CONFLICT OF INTEREST</bold></p>
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">ST and KLH are employed by Ambry Genetics. CC was funded by the SNSF Early Postdoc fellowship. YW and IH were funded by DFG We4896/3-1; He5415/6-1. The remaining authors have no conflicts of interest to disclose. added. We confirm that we have read the Journals position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.</p>
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<div class="figures" id="figures">
<h2 class="title">
Figures
</h2>
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data-label-slug="figure-1">
<a class="figure-link"
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f3/5912688/ab5e574d7574/nihms954129f1.jpg"
itemprop="contentUrl"
aria-describedby="figure-caption-0"
role="button"
data-image-width="800"
data-image-height="821"
data-image-alt="FIGURE 1"
data-pmc-id="PMC5912688"
data-figure-id="F1">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-0"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f3/5912688/46b0c6018c28/nihms954129f1.gif"
alt="FIGURE 1" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="821">
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
<div class="caption-wrap">
<strong class="figure-label">
<p> FIGURE 1 </p>
</strong>
<div class="figure-caption-contents"><p> Pedigrees of families 1 and… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> FIGURE 1 </p>
</strong>
<div class="figure-caption-contents"><p> Pedigrees of families 1 and 2 </p></div>
</div>
<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
FIGURE 1
</strong>
<div class="figure-caption-contents">Pedigrees of families 1 and 2</div>
</figcaption>
</figure>
<figure class="figure-item "
itemscope itemtype="http://schema.org/ImageObject"
itemprop="associatedMedia"
data-slide-index="1"
data-label-slug="figure-2">
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itemprop="contentUrl"
aria-describedby="figure-caption-1"
role="button"
data-image-width="800"
data-image-height="609"
data-image-alt="FIGURE 2"
data-pmc-id="PMC5912688"
data-figure-id="F2">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-1"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f3/5912688/c1bcea0e0a51/nihms954129f2.gif"
alt="FIGURE 2" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="609">
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
<div class="caption-wrap">
<strong class="figure-label">
<p> FIGURE 2 </p>
</strong>
<div class="figure-caption-contents"><p> The <i> SLC6A1 </i> gene with the… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> FIGURE 2 </p>
</strong>
<div class="figure-caption-contents"><p> The <i> SLC6A1 </i> gene with the missense variants found in this study. Recurrent variants… </p></div>
</div>
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
FIGURE 2
</strong>
<div class="figure-caption-contents">The <i>SLC6A1</i> gene with the missense variants found in this study. Recurrent variants are highlighted</div>
</figcaption>
</figure>
<figure class="figure-item "
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itemprop="associatedMedia"
data-slide-index="2"
data-label-slug="figure-3">
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itemprop="contentUrl"
aria-describedby="figure-caption-2"
role="button"
data-image-width="800"
data-image-height="621"
data-image-alt="FIGURE 3"
data-pmc-id="PMC5912688"
data-figure-id="F3">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-2"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f3/5912688/3efced37e6e3/nihms954129f3.gif"
alt="FIGURE 3" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="621">
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
<div class="caption-wrap">
<strong class="figure-label">
<p> FIGURE 3 </p>
</strong>
<div class="figure-caption-contents"><p> Similar EEG pattern in 3… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> FIGURE 3 </p>
</strong>
<div class="figure-caption-contents"><p> Similar EEG pattern in 3 different patients diagnosed as MAE-like (Patient 20), unclassified… </p></div>
</div>
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
FIGURE 3
</strong>
<div class="figure-caption-contents">Similar EEG pattern in 3 different patients diagnosed as MAE-like (Patient 20), unclassified generalized (Patient 2), and typical MAE (Patient 31). The EEG abnormalities consisted of prolonged bursts of irregular generalized 2.53.5 Hz slow waves with and without prominent spikes/polyspikes component, typically starting gradually in the occipital regions. In Patient 20, roughly the same EEG pattern can give rise to clinical manifestations consisting of atypical absence (to the left), or to a seizure with a brief atonic and myoclonic component (to the right). EEG parameters are the following. Patient 20: band pass filter 135 Hz, time constant 0.1 s, sensitivity 20 μV/mm; Patient 2: band pass filter 170 Hz time constant 0.3 s, sensitivity 10 μV/mm; Patient 31: band pass filter 130, time constant 0.16 s, sensitivity 10 μV/mm</div>
</figcaption>
</figure>
<figure class="figure-item "
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itemprop="associatedMedia"
data-slide-index="3"
data-label-slug="figure-4">
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itemprop="contentUrl"
aria-describedby="figure-caption-3"
role="button"
data-image-width="800"
data-image-height="439"
data-image-alt="FIGURE 4"
data-pmc-id="PMC5912688"
data-figure-id="F4">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-3"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f3/5912688/3f4b252fbe11/nihms954129f4.gif"
alt="FIGURE 4" />
</a>
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="439">
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
<div class="caption-wrap">
<strong class="figure-label">
<p> FIGURE 4 </p>
</strong>
<div class="figure-caption-contents"><p> Nocturnal sleep EEG in Patient… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> FIGURE 4 </p>
</strong>
<div class="figure-caption-contents"><p> Nocturnal sleep EEG in Patient 26 at the age of 4 y and… </p></div>
</div>
<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
FIGURE 4
</strong>
<div class="figure-caption-contents">Nocturnal sleep EEG in Patient 26 at the age of 4 y and 5 mo. <underline>During NREM sleep</underline> (to the left) the EEG is characterized by almost continuous spike and slow waves in the right hemisphere, with occasional spreading diffuse (spikewave index 82%). <underline>During REM sleep</underline> (to the right) the epileptiform abnormalities are less frequent and more focal in the temporocentral region. This EEG picture strongly resembles hemispheric ESES, although the clinical correlate is vague. In the right upper corner, the amplitude map corresponding to the pick of the spike shows a radial orientation of the dipole. EEG parameters: band pass filter 170 Hz, time constant 0.1 s</div>
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