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<meta name="description" content="This report expands the spectrum of SCN1A epileptic channelopathies to include malignant migrating partial seizures of infancy."><meta name="keywords" content="pmid:21555645, PMC3092158, doi:10.1001/archneurol.2011.98, Case Reports, Research Support, N.I.H., Extramural, Emily R Freilich, Julie M Jones, Phillip L Pearl, Alanine, Amino Acid Substitution, Brain / pathology, Brain / physiopathology, Electroencephalography, Epilepsies, Partial / drug therapy, Epilepsies, Partial / genetics*, Epilepsies, Partial / physiopathology*, Female, Glutamic Acid, Humans, Infant, Karyotyping, Magnetic Resonance Imaging, Mutation, Missense*, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins / genetics*, Sequence Analysis, DNA, Sodium Channels / genetics*, Status Epilepticus / genetics, Status Epilepticus / physiopathology, 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="Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/21555645/"><meta property="og:description" content="This report expands the spectrum of SCN1A epileptic channelopathies to include malignant migrating partial seizures of infancy."><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="Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/21555645/"><meta name="twitter:description" content="This report expands the spectrum of SCN1A epileptic channelopathies to include malignant migrating partial seizures of infancy."><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<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="4UKOTw52d41m52Hgprdd2RXr1KL65YsklHuTwmyoNFOQZtN62KQfwZt5zOtiYz0E">
<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="4UKOTw52d41m52Hgprdd2RXr1KL65YsklHuTwmyoNFOQZtN62KQfwZt5zOtiYz0E">
<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="4UKOTw52d41m52Hgprdd2RXr1KL65YsklHuTwmyoNFOQZtN62KQfwZt5zOtiYz0E">
<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="4UKOTw52d41m52Hgprdd2RXr1KL65YsklHuTwmyoNFOQZtN62KQfwZt5zOtiYz0E">
<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="4UKOTw52d41m52Hgprdd2RXr1KL65YsklHuTwmyoNFOQZtN62KQfwZt5zOtiYz0E">
<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="21555645">
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<div class="full-text-links">
<div class="full-view">
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Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneurol.2011.98"
target="_blank"
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rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=21555645&amp;db=pubmed&amp;nlmid=0372436"
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Full text links
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</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="/21555645/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/21555645/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="21555645" 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%2F21555645%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="4UKOTw52d41m52Hgprdd2RXr1KL65YsklHuTwmyoNFOQZtN62KQfwZt5zOtiYz0E"><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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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"
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Objective:
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To characterize a novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
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Design:
</strong>
Genomic DNA was isolated from blood and submitted for commercial testing. The identified missense mutation was confirmed in brain DNA obtained at autopsy. Genomic DNA from the brain of the proband was analyzed by comparative genome hybridization, and the coding exons of SCN9A were amplified. Quantitation studies of the mutant transcript were performed.
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Setting:
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Children's National Medical Center and Yale University School of Medicine. PROBAND: A full-term female infant who experienced seizure onset at age 10 weeks, with progression of hemiclonic, apneic, and multifocal migrating partial seizures leading to recurrent status epilepticus and death at age 9 months.
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Main outcome measures:
</strong>
Electroencephalographic and magnetic resonance imaging results, quantitative RNA expression, and secondary mutation test results.
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Results:
</strong>
The heterozygous missense mutation c.C5006C&gt;A was identified by sequencing genomic DNA from blood and was confirmed in brain DNA. The resulting amino acid substitution p.A1669E alters an evolutionarily conserved residue in an intracellular linker of domain 4 of the SCN1A sodium channel protein Na(v)1.1. The mutant transcript is found to be expressed at levels comparable to the wild-type allele in brain RNA. No variation in copy number was detected in the chromosome region 2q24 containing SCN1A or elsewhere in the genome. No mutations were detected in the linked sodium channel gene SCN9A, which has been reported to act as a modifier of SCN1A mutations.
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Conclusion:
</strong>
This report expands the spectrum of SCN1A epileptic channelopathies to include malignant migrating partial seizures of infancy.
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<div class="figure-caption-contents"><p> Two separate episodes of status… </p></div>
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<div class="figure-caption-contents"><p> Two separate episodes of status epilepticus with different originating hemispheres with first episode… </p></div>
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<div class="figure-caption-contents">Two separate episodes of status epilepticus with different originating hemispheres with first episode A) occurring from L Centrotemporal region on 7/7/09 and second episode B) occurring from R posterior quadrant on 7/13/09.</div>
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<div class="figure-caption-contents"><p> Alternating Foci of Seizures at… </p></div>
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<div class="figure-caption-contents"><p> Alternating Foci of Seizures at age 9 months showing A) electrographic seizure in… </p></div>
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<div class="figure-caption-contents">Alternating Foci of Seizures at age 9 months showing A) electrographic seizure in left centrotemporal area at 18:31:47, followed by B) onset of electrographic seizure from R centrotemporal area, 1 minute later at 18:33</div>
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<div class="figure-caption-contents"><p> MRI of brain at 5… </p></div>
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<div class="figure-caption-contents"><p> MRI of brain at 5 months demonstrating restricted diffusion of R hippocampi </p></div>
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<div class="figure-caption-contents">MRI of brain at 5 months demonstrating restricted diffusion of R hippocampi</div>
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<div class="figure-caption-contents"><p> MRI of brain from 2… </p></div>
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<div class="figure-caption-contents"><p> MRI of brain from 2 to 7 months of age demonstrating progressive atrophy,… </p></div>
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Figure 4
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<div class="figure-caption-contents">MRI of brain from 2 to 7 months of age demonstrating progressive atrophy, lack of myelination, and ventriculomegaly. A. MRI at 2 months of age; B. MRI at 5 months of age; C. MRI at 7 months of age. D. MR spectroscopy demonstrating equal levels of choline and NAA, suggestive of low NAA.</div>
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<div class="figure-caption-contents"><p> MRI of brain from 2… </p></div>
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<div class="figure-caption-contents"><p> MRI of brain from 2 to 7 months of age demonstrating progressive atrophy,… </p></div>
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Figure 4
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<div class="figure-caption-contents">MRI of brain from 2 to 7 months of age demonstrating progressive atrophy, lack of myelination, and ventriculomegaly. A. MRI at 2 months of age; B. MRI at 5 months of age; C. MRI at 7 months of age. D. MR spectroscopy demonstrating equal levels of choline and NAA, suggestive of low NAA.</div>
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<div class="figure-caption-contents"><p> Patient mutation A1669E in <i> SCN1A… </i> </p></div>
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<div class="figure-caption-contents"><p> Patient mutation A1669E in <i> SCN1A </i> . A. DNA sequence from brain DNA. B.… </p></div>
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Figure 5
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<div class="figure-caption-contents">Patient mutation A1669E in <i>SCN1A</i>. A. DNA sequence from brain DNA. B. Position of mutation in the channel protein C. Evolutionary conservation of the mutated residue.</div>
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<div class="figure-caption-contents"><p> Quantitation of mutant and wildtype… </p></div>
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<div class="figure-caption-contents"><p> Quantitation of mutant and wildtype <i> SCN1A </i> transcripts in patient brain RNA. A. Strategy… </p></div>
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<div class="figure-caption-contents">Quantitation of mutant and wildtype <i>SCN1A</i> transcripts in patient brain RNA. A. Strategy for quantitation of mutant and wildtype transcripts in heterozygous patient RNA based on the new DdeI site generated by the C&gt;A mutation. B. Two novel DdeI products of 280 and 247 bp in the heterozgous patient. The total abundance of PCR product is similar in patient and control ( DdeI lanes). C. Capillary electrophoretic separation of the 5 end-labeled Dde1 fragments of 528 bp (wildtype allele) and 280 bp (mutant allele) in the patient RTPCR product. D. Quantitation of the 280 and 528 bp products by calculation of peak area (2326 and 3370 arbitrary units, respectively).</div>
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Status Epilepticus / genetics
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<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"
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</div>
<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=1">
Cited in Books
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=2">
ClinVar
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=3">
Gene
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=4">
Gene (GeneRIF)
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=5">
MedGen
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=6">
MedGen (Bookshelf cited)
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=7">
OMIM (cited)
</a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=8">
Protein
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=9">
Protein (RefSeq)
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=10">
PubChem Compound
</a></li><li><a title="Related PubChem Compound via MeSH" href="https://www.ncbi.nlm.nih.gov/pccompound?linkname=pubmed_pccompound_mesh&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=11">
PubChem Compound (MeSH Keyword)
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=12">
PubChem Substance
</a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&amp;from_uid=21555645"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21555645&ordinalpos=1&linkpos=13">
SNP
</a></li></ul>
</div>
<div id="grants" class="grants">
<h2 class="title">
Grants and funding
</h2>
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title="All articles for grant R01 HD58553/HD/NICHD NIH HHS/United States"
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href="/?term=R01+NS034509%2FNS%2FNINDS+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc"
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title="All articles for grant NS34509/NS/NINDS NIH HHS/United States"
href="/?term=NS34509%2FNS%2FNINDS+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc"
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