1914 lines
No EOL
133 KiB
HTML
1914 lines
No EOL
133 KiB
HTML
<?xml version="1.0" encoding="utf-8"?>
|
||
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
||
<html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en">
|
||
<head xmlns:xi="http://www.w3.org/2001/XInclude"><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
||
<!-- meta -->
|
||
<meta name="keywords" content="C5561979, clcn3, disease or syndrome, nedsba, neurodevelopmental disorder with seizures and brain abnormalities, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
|
||
<meta name="ncbi_app" content="entrez" /><meta name="ncbi_db" content="medgen" /><meta name="ncbi_term" content="c5561979[conceptid]" /><meta name="ncbi_report" content="fullreport" /><meta name="ncbi_format" content="html" /><meta name="ncbi_pagesize" content="20" /><meta name="ncbi_sortorder" content="default" /><meta name="ncbi_pageno" content="1" /><meta name="ncbi_resultcount" content="1" /><meta name="ncbi_op" content="search" /><meta name="ncbi_pdid" content="fullreport" /><meta name="ncbi_sessionid" content="CE8B5AF87C7FFCB1_0191SID" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
|
||
|
||
|
||
<!-- title -->
|
||
<title>Neurodevelopmental disorder with seizures and brain abnormalities (Concept Id: C5561979)
|
||
- MedGen - NCBI</title>
|
||
|
||
<!-- Common JS and CSS -->
|
||
|
||
<script type="text/javascript">
|
||
var ncbi_startTime = new Date();
|
||
</script>
|
||
<script type="text/javascript" src="https://static.pubmed.gov/core/jig/1.15.10/js/jig.min.js"></script>
|
||
|
||
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer/" />
|
||
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8B58577CC454F10000000000130010.m_32" /><script type="text/javascript"><!--
|
||
var ScriptPath = '/portal/';
|
||
var objHierarchy = {"name":"EntrezSystem2","type":"Layout","realname":"EntrezSystem2",
|
||
"children":[{"name":"EntrezSystem2.PEntrez","type":"Cluster","realname":"EntrezSystem2.PEntrez",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.DbConnector","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.DbConnector","shortname":"DbConnector"},
|
||
{"name":"EntrezSystem2.PEntrez.ParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.ParamContainer","shortname":"ParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.MyNcbi","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.MyNcbi","shortname":"MyNcbi"},
|
||
{"name":"EntrezSystem2.PEntrez.UserPreferenceUrlParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.UserPreferenceUrlParamContainer","shortname":"UserPreferenceUrlParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.GridProperty","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.GridProperty","shortname":"GridProperty"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NoPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NoPortlet","shortname":"NoPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","shortname":"MedGen_PageController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","shortname":"MedGen_SearchBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","shortname":"MedGen_BotRequest"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","shortname":"MedGen_LimitsTab"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Facets","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Facets","shortname":"Entrez_Facets"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Clipboard","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Clipboard","shortname":"Entrez_Clipboard"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","shortname":"MedGen_StaticParts"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Messages","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Messages","shortname":"Entrez_Messages"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NcbiJSCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NcbiJSCheck","shortname":"NcbiJSCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.Footer_ExtraData","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.Footer_ExtraData","shortname":"Footer_ExtraData"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]}]},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.blankToolPanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.blankToolPanel","shortname":"blankToolPanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","shortname":"MedGen_ResultsController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","shortname":"MedGen_FiltersPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Pager","shortname":"Entrez_Pager"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","shortname":"MedGen_DisplayBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HelpFormAttributes","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HelpFormAttributes","shortname":"HelpFormAttributes"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Collections","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Collections","shortname":"Entrez_Collections"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SpellCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SpellCheck","shortname":"SpellCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SearchEngineReferralCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SearchEngineReferralCheck","shortname":"SearchEngineReferralCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.WrongDbSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.WrongDbSensor","shortname":"WrongDbSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.KnowledgePanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.KnowledgePanel","shortname":"KnowledgePanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HistoryDisplay","shortname":"HistoryDisplay"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Discovery_SearchDetails","shortname":"Discovery_SearchDetails"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","shortname":"mg_GeneSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","shortname":"MedGen_ClinFeatureSearch"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","shortname":"MedGen_RVFull"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","shortname":"MedGenDiscoveryDbLinks"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","shortname":"MedGen_SingleItemSupl"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","shortname":"MedGenReviews"}]}]}]}]}]};
|
||
--></script>
|
||
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3808861/3917732/3974050/3751656/3395415/4221762/14534/4062871/4186458/4075711/12930/4033350/4128070/3861632/4013176/4212357/4064428/4186491/9685/2279/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3501913/1303451.css" media="print" /><script type="text/javascript">
|
||
|
||
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
|
||
|
||
|
||
var ActiveNames = {"p$ExL":1, "EntrezSystem2.PEntrez.DbConnector.Cmd":0, "EntrezSystem2.PEntrez.DbConnector.Db":0, "EntrezSystem2.PEntrez.DbConnector.IdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastDb":0, "EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastQueryKey":0, "EntrezSystem2.PEntrez.DbConnector.LastTabCmd":0, "EntrezSystem2.PEntrez.DbConnector.LinkName":0, "EntrezSystem2.PEntrez.DbConnector.LinkReadableName":0, "EntrezSystem2.PEntrez.DbConnector.LinkSrcDb":0, "EntrezSystem2.PEntrez.DbConnector.QueryKey":0, "EntrezSystem2.PEntrez.DbConnector.TabCmd":0, "EntrezSystem2.PEntrez.DbConnector.Term":0, "EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter":0};
|
||
</script></head>
|
||
<body>
|
||
<div class="grid">
|
||
<div class="col twelve_col nomargin shadow">
|
||
<form enctype="application/x-www-form-urlencoded" name="EntrezForm" method="post" onsubmit="return false;" action="/medgen" id="EntrezForm">
|
||
<div xmlns:xi="http://www.w3.org/2001/XInclude">
|
||
<!-- no javascript message -->
|
||
<noscript>
|
||
<p class="nojs">
|
||
<strong>Warning:</strong>
|
||
The NCBI web site requires JavaScript to function.
|
||
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
||
</p>
|
||
</noscript>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it's official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you're on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
|
||
<span class="fa fa-user" aria-hidden="true">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
|
||
<g style="fill: #fff">
|
||
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
|
||
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
|
||
</g>
|
||
</svg>
|
||
</span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
|
||
<span class="fa fa-times">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
|
||
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
|
||
</svg>
|
||
</span>
|
||
<span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br />
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
</div>
|
||
|
||
<div class="header">
|
||
<!-- logo -->
|
||
<div class="res_logo" id="gene-top">
|
||
<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
|
||
<h2 class="res_tagline">National Center for Biotechnology Information</h2>
|
||
</div>
|
||
<!-- SearchBar -->
|
||
<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="clinvar">ClinVar</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="books" class="last">Books</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=medgen&qk=35098" id="SaveSearch">Create alert</a></li><li><a sid="1" href="/medgen/limits">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
|
||
</div>
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
|
||
<div id="maincontent" class="col nine_col">
|
||
<div class="content">
|
||
<div>
|
||
|
||
|
||
</div>
|
||
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="1" value="FullReport" format="" id="FullReport" checked="true" /><label for="FullReport">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="2" value="FullReport" format="text" id="FullReporttext" /><label for="FullReporttext">Summary (Text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="3" value="XML" format="text" id="XMLtext" /><label for="XMLtext">Summary (XML)</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
|
||
var selectedValue = jQuery(this).val().toLowerCase();
|
||
var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
|
||
|
||
if(selectedDiv.is(":hidden")){
|
||
jQuery("#send_to_menu div.submenu:visible").slideUp();
|
||
selectedDiv.slideDown();
|
||
}
|
||
});
|
||
|
||
});
|
||
|
||
jQuery("#sendto").bind("ncbipopperclose", function(){
|
||
jQuery("#send_to_menu div.submenu:visible").css("display","none");
|
||
jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
|
||
});
|
||
|
||
</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat" sid="1"><option value="FullReport" format="text" selected="selected">Summary (Text)</option><option value="XML" format="text">Summary (XML)</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
|
||
<div class="">
|
||
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
|
||
|
||
</div>
|
||
<div id="messagearea" class="empty">
|
||
|
||
|
||
|
||
</div>
|
||
<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
|
||
<!--
|
||
UID=1794189
|
||
ConceptID=C5561979
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with seizures and brain abnormalities<span class="h1sub">(NEDSBA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794189</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5561979</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>NEDSBA; NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CLCN3 - ID: 1182 - NCBI Gene" href="/gene/1182" class="medgenPMinfo">CLCN3</a> (4q33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859188" target="_blank">MONDO:0859188</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619517" target="_blank">619517</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_342926"><div><strong>Dilation of Virchow-Robin spaces</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342926</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342926">Feature record</a> | <a href="/medgen?term=%22Dilation%20of%20Virchow-Robin%20spaces%22%5BClinical%20Features%5D%20OR%20342926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98127"><div><strong>Partial agenesis of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98127</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0431368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A partial failure of the development of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98127">Feature record</a> | <a href="/medgen?term=%22Partial%20agenesis%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%2098127%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332508"><div><strong>Delayed gross motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332508</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332508">Feature record</a> | <a href="/medgen?term=%22Delayed%20gross%20motor%20development%22%5BClinical%20Features%5D%20OR%20332508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383904"><div><strong>Lateral ventricle dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383904</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383904">Feature record</a> | <a href="/medgen?term=%22Lateral%20ventricle%20dilatation%22%5BClinical%20Features%5D%20OR%20383904%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854457"><div><strong>Restlessness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854457</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854457">Feature record</a> | <a href="/medgen?term=%22Restlessness%22%5BClinical%20Features%5D%20OR%20854457%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867758"><div><strong>Abnormal dentate nucleus morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867758</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the dentate nucleus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867758">Feature record</a> | <a href="/medgen?term=%22Abnormal%20dentate%20nucleus%20morphology%22%5BClinical%20Features%5D%20OR%20867758%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869257"><div><strong>Delayed fine motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869257</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4023681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869257">Feature record</a> | <a href="/medgen?term=%22Delayed%20fine%20motor%20development%22%5BClinical%20Features%5D%20OR%20869257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1373776"><div><strong>Reduced amygdala volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373776</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4476780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the volume (size) of the amygdyla.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1373776">Feature record</a> | <a href="/medgen?term=%22Reduced%20amygdala%20volume%22%5BClinical%20Features%5D%20OR%201373776%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1388294"><div><strong>Hypoplastic hippocampus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1388294</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4476822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the hippocampus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1388294">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20hippocampus%22%5BClinical%20Features%5D%20OR%201388294%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326574"><div><strong>Tented upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326574</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326574">Feature record</a> | <a href="/medgen?term=%22Tented%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347513"><div><strong>Retinal pigment epithelial mottling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347513</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347513">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20mottling%22%5BClinical%20Features%5D%20OR%20347513%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1372887"><div><strong>Visual fixation instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1372887</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4476760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficit in the ability to fixate eye movements in order to stabilize images on the retina</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1372887">Feature record</a> | <a href="/medgen?term=%22Visual%20fixation%20instability%22%5BClinical%20Features%5D%20OR%201372887%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tented upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilation of Virchow-Robin spaces</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial mottling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1372887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual fixation instability</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal dentate nucleus morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed fine motor development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed gross motor development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1388294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic hippocampus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral ventricle dilatation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partial agenesis of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1373776" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced amygdala volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restlessness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37669572">Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Nabbout R,
|
||
Aronica E,
|
||
Auvin S,
|
||
Benvenuto A,
|
||
de Palma L,
|
||
Feucht M,
|
||
Jansen F,
|
||
Kotulska K,
|
||
Sarnat H,
|
||
Lagae L,
|
||
Jozwiak S,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2023 Nov;47:25-34.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1016/j.ejpn.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37669572" target="_blank">37669572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
|
||
Marcos-Grañeda E,
|
||
Weiss LA,
|
||
Gurnett CA,
|
||
Jelsig AM,
|
||
Vineke SH,
|
||
Isidor B,
|
||
Mercier S,
|
||
Magnussen K,
|
||
Zacher P,
|
||
Hashim M,
|
||
Pagnamenta AT,
|
||
Race S,
|
||
Srivastava S,
|
||
Frazier Z,
|
||
Maiwald R,
|
||
Pergande M,
|
||
Milani D,
|
||
Rinelli M,
|
||
Levy J,
|
||
Krey I,
|
||
Fontana P,
|
||
Lonardo F,
|
||
Riley S,
|
||
Kretzer J,
|
||
Rankin J,
|
||
Reis LM,
|
||
Semina EV,
|
||
Reuter MS,
|
||
Scherer SW,
|
||
Iascone M,
|
||
Weis D,
|
||
Fagerberg CR,
|
||
Brasch-Andersen C,
|
||
Hansen LK,
|
||
Kuechler A,
|
||
Noble N,
|
||
Gardham A,
|
||
Tenney J,
|
||
Rathore G,
|
||
Beck-Woedl S,
|
||
Haack TB,
|
||
Pavlidou DC,
|
||
Atallah I,
|
||
Vodopiutz J,
|
||
Janecke AR,
|
||
Hsieh TC,
|
||
Lesmann H,
|
||
Klinkhammer H,
|
||
Krawitz PM,
|
||
Lemke JR,
|
||
Jamra RA,
|
||
Nieto M,
|
||
Tümer Z,
|
||
Platzer K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Nov;31(11):1251-1260.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1038/s41431-023-01445-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36216457">Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oyama N,
|
||
Vaneynde P,
|
||
Reynhout S,
|
||
Pao EM,
|
||
Timms A,
|
||
Fan X,
|
||
Foss K,
|
||
Derua R,
|
||
Janssens V,
|
||
Chung W,
|
||
Mirzaa GM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 May;60(5):511-522.
|
||
Epub 2022 Oct 10
|
||
doi: 10.1136/jmg-2022-108713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36216457" target="_blank">36216457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (58)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37669572">Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Nabbout R,
|
||
Aronica E,
|
||
Auvin S,
|
||
Benvenuto A,
|
||
de Palma L,
|
||
Feucht M,
|
||
Jansen F,
|
||
Kotulska K,
|
||
Sarnat H,
|
||
Lagae L,
|
||
Jozwiak S,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2023 Nov;47:25-34.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1016/j.ejpn.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37669572" target="_blank">37669572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35190816">Assessing the landscape of STXBP1-related disorders in 534 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Parthasarathy S,
|
||
Ruggiero SM,
|
||
Balagura G,
|
||
Fitch E,
|
||
Helbig K,
|
||
Gan J,
|
||
Ganesan S,
|
||
Kaufman MC,
|
||
Ellis CA,
|
||
Lewis-Smith D,
|
||
Galer P,
|
||
Cunningham K,
|
||
O'Brien M,
|
||
Cosico M,
|
||
Baker K,
|
||
Darling A,
|
||
Veiga de Goes F,
|
||
El Achkar CM,
|
||
Doering JH,
|
||
Furia F,
|
||
García-Cazorla Á,
|
||
Gardella E,
|
||
Geertjens L,
|
||
Klein C,
|
||
Kolesnik-Taylor A,
|
||
Lammertse H,
|
||
Lee J,
|
||
Mackie A,
|
||
Misra-Isrie M,
|
||
Olson H,
|
||
Sexton E,
|
||
Sheidley B,
|
||
Smith L,
|
||
Sotero L,
|
||
Stamberger H,
|
||
Syrbe S,
|
||
Thalwitzer KM,
|
||
van Berkel A,
|
||
van Haelst M,
|
||
Yuskaitis C,
|
||
Weckhuysen S,
|
||
Prosser B,
|
||
Son Rigby C,
|
||
Demarest S,
|
||
Pierce S,
|
||
Zhang Y,
|
||
Møller RS,
|
||
Bruining H,
|
||
Poduri A,
|
||
Zara F,
|
||
Verhage M,
|
||
Striano P,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 3;145(5):1668-1683.
|
||
doi: 10.1093/brain/awab327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35190816" target="_blank">35190816</a><a href="/pmc/articles/PMC9166568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
|
||
Kuchenbuch M,
|
||
Barcia G,
|
||
Schneider A,
|
||
Jennesson M,
|
||
Le Guyader G,
|
||
Lesca G,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Parrini E,
|
||
Isnard H,
|
||
Rolland A,
|
||
Keren B,
|
||
Afenjar A,
|
||
Dorison N,
|
||
Sadleir LG,
|
||
Breuillard D,
|
||
Levy R,
|
||
Rio M,
|
||
Dupont S,
|
||
Negrin S,
|
||
Danieli A,
|
||
Scalais E,
|
||
De Saint Martin A,
|
||
El Chehadeh S,
|
||
Chelly J,
|
||
Poisson A,
|
||
Lebre AS,
|
||
Nica A,
|
||
Odent S,
|
||
Sekhara T,
|
||
Brankovic V,
|
||
Goldenberg A,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Maurey H,
|
||
Terrone G,
|
||
Besmond C,
|
||
Hubert L,
|
||
Berquin P,
|
||
Billette de Villemeur T,
|
||
Isidor B,
|
||
Freeman JL,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Howell KB,
|
||
Rodríguez-Sacristán Cascajo A,
|
||
Meyer P,
|
||
Genevieve D,
|
||
Guët A,
|
||
Doummar D,
|
||
Durigneux J,
|
||
van Dooren MF,
|
||
de Wit MCY,
|
||
Gerard M,
|
||
Marey I,
|
||
Munnich A,
|
||
Guerrini R,
|
||
Scheffer IE,
|
||
Kabashi E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2461-2473.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/epi.16679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (489)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37669572">Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Nabbout R,
|
||
Aronica E,
|
||
Auvin S,
|
||
Benvenuto A,
|
||
de Palma L,
|
||
Feucht M,
|
||
Jansen F,
|
||
Kotulska K,
|
||
Sarnat H,
|
||
Lagae L,
|
||
Jozwiak S,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2023 Nov;47:25-34.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1016/j.ejpn.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37669572" target="_blank">37669572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
|
||
Marcos-Grañeda E,
|
||
Weiss LA,
|
||
Gurnett CA,
|
||
Jelsig AM,
|
||
Vineke SH,
|
||
Isidor B,
|
||
Mercier S,
|
||
Magnussen K,
|
||
Zacher P,
|
||
Hashim M,
|
||
Pagnamenta AT,
|
||
Race S,
|
||
Srivastava S,
|
||
Frazier Z,
|
||
Maiwald R,
|
||
Pergande M,
|
||
Milani D,
|
||
Rinelli M,
|
||
Levy J,
|
||
Krey I,
|
||
Fontana P,
|
||
Lonardo F,
|
||
Riley S,
|
||
Kretzer J,
|
||
Rankin J,
|
||
Reis LM,
|
||
Semina EV,
|
||
Reuter MS,
|
||
Scherer SW,
|
||
Iascone M,
|
||
Weis D,
|
||
Fagerberg CR,
|
||
Brasch-Andersen C,
|
||
Hansen LK,
|
||
Kuechler A,
|
||
Noble N,
|
||
Gardham A,
|
||
Tenney J,
|
||
Rathore G,
|
||
Beck-Woedl S,
|
||
Haack TB,
|
||
Pavlidou DC,
|
||
Atallah I,
|
||
Vodopiutz J,
|
||
Janecke AR,
|
||
Hsieh TC,
|
||
Lesmann H,
|
||
Klinkhammer H,
|
||
Krawitz PM,
|
||
Lemke JR,
|
||
Jamra RA,
|
||
Nieto M,
|
||
Tümer Z,
|
||
Platzer K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Nov;31(11):1251-1260.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1038/s41431-023-01445-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34211179">Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousin MA,
|
||
Creighton BA,
|
||
Breau KA,
|
||
Spillmann RC,
|
||
Torti E,
|
||
Dontu S,
|
||
Tripathi S,
|
||
Ajit D,
|
||
Edwards RJ,
|
||
Afriyie S,
|
||
Bay JC,
|
||
Harper KM,
|
||
Beltran AA,
|
||
Munoz LJ,
|
||
Falcon Rodriguez L,
|
||
Stankewich MC,
|
||
Person RE,
|
||
Si Y,
|
||
Normand EA,
|
||
Blevins A,
|
||
May AS,
|
||
Bier L,
|
||
Aggarwal V,
|
||
Mancini GMS,
|
||
van Slegtenhorst MA,
|
||
Cremer K,
|
||
Becker J,
|
||
Engels H,
|
||
Aretz S,
|
||
MacKenzie JJ,
|
||
Brilstra E,
|
||
van Gassen KLI,
|
||
van Jaarsveld RH,
|
||
Oegema R,
|
||
Parsons GM,
|
||
Mark P,
|
||
Helbig I,
|
||
McKeown SE,
|
||
Stratton R,
|
||
Cogne B,
|
||
Isidor B,
|
||
Cacheiro P,
|
||
Smedley D,
|
||
Firth HV,
|
||
Bierhals T,
|
||
Kloth K,
|
||
Weiss D,
|
||
Fairley C,
|
||
Shieh JT,
|
||
Kritzer A,
|
||
Jayakar P,
|
||
Kurtz-Nelson E,
|
||
Bernier RA,
|
||
Wang T,
|
||
Eichler EE,
|
||
van de Laar IMBH,
|
||
McConkie-Rosell A,
|
||
McDonald MT,
|
||
Kemppainen J,
|
||
Lanpher BC,
|
||
Schultz-Rogers LE,
|
||
Gunderson LB,
|
||
Pichurin PN,
|
||
Yoon G,
|
||
Zech M,
|
||
Jech R,
|
||
Winkelmann J;
|
||
Undiagnosed Diseases Network;
|
||
Genomics England Research Consortium,
|
||
Beltran AS,
|
||
Zimmermann MT,
|
||
Temple B,
|
||
Moy SS,
|
||
Klee EW,
|
||
Tan QK,
|
||
Lorenzo DN</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2021 Jul;53(7):1006-1021.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1038/s41588-021-00886-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34211179" target="_blank">34211179</a><a href="/pmc/articles/PMC8273149" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30182446">Holoprosencephaly from conception to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss K,
|
||
Kruszka PS,
|
||
Levey E,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Jun;178(2):122-127.
|
||
doi: 10.1002/ajmg.c.31624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30182446" target="_blank">30182446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040994">Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margolis SS,
|
||
Sell GL,
|
||
Zbinden MA,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2015 Jul;12(3):641-50.
|
||
doi: 10.1007/s13311-015-0361-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26040994" target="_blank">26040994</a><a href="/pmc/articles/PMC4489961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (694)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38748979">Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pack AM,
|
||
Oskoui M,
|
||
Williams Roberson S,
|
||
Donley DK,
|
||
French J,
|
||
Gerard EE,
|
||
Gloss D,
|
||
Miller WR,
|
||
Munger Clary HM,
|
||
Osmundson SS,
|
||
McFadden B,
|
||
Parratt K,
|
||
Pennell PB,
|
||
Saade G,
|
||
Smith DB,
|
||
Sullivan K,
|
||
Thomas SV,
|
||
Tomson T,
|
||
Dolan O'Brien M,
|
||
Botchway-Doe K,
|
||
Silsbee HM,
|
||
Keezer MR</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Jun;102(11):e209279.
|
||
Epub 2024 May 15
|
||
doi: 10.1212/WNL.0000000000209279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38748979" target="_blank">38748979</a><a href="/pmc/articles/PMC11175651" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37669572">Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Nabbout R,
|
||
Aronica E,
|
||
Auvin S,
|
||
Benvenuto A,
|
||
de Palma L,
|
||
Feucht M,
|
||
Jansen F,
|
||
Kotulska K,
|
||
Sarnat H,
|
||
Lagae L,
|
||
Jozwiak S,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2023 Nov;47:25-34.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1016/j.ejpn.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37669572" target="_blank">37669572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040994">Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margolis SS,
|
||
Sell GL,
|
||
Zbinden MA,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2015 Jul;12(3):641-50.
|
||
doi: 10.1007/s13311-015-0361-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26040994" target="_blank">26040994</a><a href="/pmc/articles/PMC4489961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17105454">Deterioration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown S</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2006;47 Suppl 2:19-23.
|
||
doi: 10.1111/j.1528-1167.2006.00682.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17105454" target="_blank">17105454</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (201)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38582661">Epileptic encephalopathies and progressive neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Conti V</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2024 May;180(5):363-367.
|
||
Epub 2024 Apr 5
|
||
doi: 10.1016/j.neurol.2024.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38582661" target="_blank">38582661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
|
||
Marcos-Grañeda E,
|
||
Weiss LA,
|
||
Gurnett CA,
|
||
Jelsig AM,
|
||
Vineke SH,
|
||
Isidor B,
|
||
Mercier S,
|
||
Magnussen K,
|
||
Zacher P,
|
||
Hashim M,
|
||
Pagnamenta AT,
|
||
Race S,
|
||
Srivastava S,
|
||
Frazier Z,
|
||
Maiwald R,
|
||
Pergande M,
|
||
Milani D,
|
||
Rinelli M,
|
||
Levy J,
|
||
Krey I,
|
||
Fontana P,
|
||
Lonardo F,
|
||
Riley S,
|
||
Kretzer J,
|
||
Rankin J,
|
||
Reis LM,
|
||
Semina EV,
|
||
Reuter MS,
|
||
Scherer SW,
|
||
Iascone M,
|
||
Weis D,
|
||
Fagerberg CR,
|
||
Brasch-Andersen C,
|
||
Hansen LK,
|
||
Kuechler A,
|
||
Noble N,
|
||
Gardham A,
|
||
Tenney J,
|
||
Rathore G,
|
||
Beck-Woedl S,
|
||
Haack TB,
|
||
Pavlidou DC,
|
||
Atallah I,
|
||
Vodopiutz J,
|
||
Janecke AR,
|
||
Hsieh TC,
|
||
Lesmann H,
|
||
Klinkhammer H,
|
||
Krawitz PM,
|
||
Lemke JR,
|
||
Jamra RA,
|
||
Nieto M,
|
||
Tümer Z,
|
||
Platzer K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Nov;31(11):1251-1260.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1038/s41431-023-01445-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33513338">Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">den Hoed J,
|
||
de Boer E,
|
||
Voisin N,
|
||
Dingemans AJM,
|
||
Guex N,
|
||
Wiel L,
|
||
Nellaker C,
|
||
Amudhavalli SM,
|
||
Banka S,
|
||
Bena FS,
|
||
Ben-Zeev B,
|
||
Bonagura VR,
|
||
Bruel AL,
|
||
Brunet T,
|
||
Brunner HG,
|
||
Chew HB,
|
||
Chrast J,
|
||
Cimbalistienė L,
|
||
Coon H;
|
||
DDD Study,
|
||
Délot EC,
|
||
Démurger F,
|
||
Denommé-Pichon AS,
|
||
Depienne C,
|
||
Donnai D,
|
||
Dyment DA,
|
||
Elpeleg O,
|
||
Faivre L,
|
||
Gilissen C,
|
||
Granger L,
|
||
Haber B,
|
||
Hachiya Y,
|
||
Abedi YH,
|
||
Hanebeck J,
|
||
Hehir-Kwa JY,
|
||
Horist B,
|
||
Itai T,
|
||
Jackson A,
|
||
Jewell R,
|
||
Jones KL,
|
||
Joss S,
|
||
Kashii H,
|
||
Kato M,
|
||
Kattentidt-Mouravieva AA,
|
||
Kok F,
|
||
Kotzaeridou U,
|
||
Krishnamurthy V,
|
||
Kučinskas V,
|
||
Kuechler A,
|
||
Lavillaureix A,
|
||
Liu P,
|
||
Manwaring L,
|
||
Matsumoto N,
|
||
Mazel B,
|
||
McWalter K,
|
||
Meiner V,
|
||
Mikati MA,
|
||
Miyatake S,
|
||
Mizuguchi T,
|
||
Moey LH,
|
||
Mohammed S,
|
||
Mor-Shaked H,
|
||
Mountford H,
|
||
Newbury-Ecob R,
|
||
Odent S,
|
||
Orec L,
|
||
Osmond M,
|
||
Palculict TB,
|
||
Parker M,
|
||
Petersen AK,
|
||
Pfundt R,
|
||
Preikšaitienė E,
|
||
Radtke K,
|
||
Ranza E,
|
||
Rosenfeld JA,
|
||
Santiago-Sim T,
|
||
Schwager C,
|
||
Sinnema M,
|
||
Snijders Blok L,
|
||
Spillmann RC,
|
||
Stegmann APA,
|
||
Thiffault I,
|
||
Tran L,
|
||
Vaknin-Dembinsky A,
|
||
Vedovato-Dos-Santos JH,
|
||
Schrier Vergano SA,
|
||
Vilain E,
|
||
Vitobello A,
|
||
Wagner M,
|
||
Waheeb A,
|
||
Willing M,
|
||
Zuccarelli B,
|
||
Kini U,
|
||
Newbury DF,
|
||
Kleefstra T,
|
||
Reymond A,
|
||
Fisher SE,
|
||
Vissers LELM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Feb 4;108(2):346-356.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1016/j.ajhg.2021.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33513338" target="_blank">33513338</a><a href="/pmc/articles/PMC7895900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
|
||
Kuchenbuch M,
|
||
Barcia G,
|
||
Schneider A,
|
||
Jennesson M,
|
||
Le Guyader G,
|
||
Lesca G,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Parrini E,
|
||
Isnard H,
|
||
Rolland A,
|
||
Keren B,
|
||
Afenjar A,
|
||
Dorison N,
|
||
Sadleir LG,
|
||
Breuillard D,
|
||
Levy R,
|
||
Rio M,
|
||
Dupont S,
|
||
Negrin S,
|
||
Danieli A,
|
||
Scalais E,
|
||
De Saint Martin A,
|
||
El Chehadeh S,
|
||
Chelly J,
|
||
Poisson A,
|
||
Lebre AS,
|
||
Nica A,
|
||
Odent S,
|
||
Sekhara T,
|
||
Brankovic V,
|
||
Goldenberg A,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Maurey H,
|
||
Terrone G,
|
||
Besmond C,
|
||
Hubert L,
|
||
Berquin P,
|
||
Billette de Villemeur T,
|
||
Isidor B,
|
||
Freeman JL,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Howell KB,
|
||
Rodríguez-Sacristán Cascajo A,
|
||
Meyer P,
|
||
Genevieve D,
|
||
Guët A,
|
||
Doummar D,
|
||
Durigneux J,
|
||
van Dooren MF,
|
||
de Wit MCY,
|
||
Gerard M,
|
||
Marey I,
|
||
Munnich A,
|
||
Guerrini R,
|
||
Scheffer IE,
|
||
Kabashi E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2461-2473.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/epi.16679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (347)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35358416">De novo variants in ATP2B1 lead to neurodevelopmental delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahimi MJ,
|
||
Urban N,
|
||
Wegler M,
|
||
Sticht H,
|
||
Schaefer M,
|
||
Popp B,
|
||
Gaunitz F,
|
||
Morleo M,
|
||
Nigro V,
|
||
Maitz S,
|
||
Mancini GMS,
|
||
Ruivenkamp C,
|
||
Suk EK,
|
||
Bartolomaeus T,
|
||
Merkenschlager A,
|
||
Koboldt D,
|
||
Bartholomew D,
|
||
Stegmann APA,
|
||
Sinnema M,
|
||
Duynisveld I,
|
||
Salvarinova R,
|
||
Race S,
|
||
de Vries BBA,
|
||
Trimouille A,
|
||
Naudion S,
|
||
Marom D,
|
||
Hamiel U,
|
||
Henig N,
|
||
Demurger F,
|
||
Rahner N,
|
||
Bartels E,
|
||
Hamm JA,
|
||
Putnam AM,
|
||
Person R,
|
||
Abou Jamra R,
|
||
Oppermann H</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 May 5;109(5):944-952.
|
||
Epub 2022 Mar 30
|
||
doi: 10.1016/j.ajhg.2022.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35358416" target="_blank">35358416</a><a href="/pmc/articles/PMC9118097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35190816">Assessing the landscape of STXBP1-related disorders in 534 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Parthasarathy S,
|
||
Ruggiero SM,
|
||
Balagura G,
|
||
Fitch E,
|
||
Helbig K,
|
||
Gan J,
|
||
Ganesan S,
|
||
Kaufman MC,
|
||
Ellis CA,
|
||
Lewis-Smith D,
|
||
Galer P,
|
||
Cunningham K,
|
||
O'Brien M,
|
||
Cosico M,
|
||
Baker K,
|
||
Darling A,
|
||
Veiga de Goes F,
|
||
El Achkar CM,
|
||
Doering JH,
|
||
Furia F,
|
||
García-Cazorla Á,
|
||
Gardella E,
|
||
Geertjens L,
|
||
Klein C,
|
||
Kolesnik-Taylor A,
|
||
Lammertse H,
|
||
Lee J,
|
||
Mackie A,
|
||
Misra-Isrie M,
|
||
Olson H,
|
||
Sexton E,
|
||
Sheidley B,
|
||
Smith L,
|
||
Sotero L,
|
||
Stamberger H,
|
||
Syrbe S,
|
||
Thalwitzer KM,
|
||
van Berkel A,
|
||
van Haelst M,
|
||
Yuskaitis C,
|
||
Weckhuysen S,
|
||
Prosser B,
|
||
Son Rigby C,
|
||
Demarest S,
|
||
Pierce S,
|
||
Zhang Y,
|
||
Møller RS,
|
||
Bruining H,
|
||
Poduri A,
|
||
Zara F,
|
||
Verhage M,
|
||
Striano P,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 3;145(5):1668-1683.
|
||
doi: 10.1093/brain/awab327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35190816" target="_blank">35190816</a><a href="/pmc/articles/PMC9166568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34211179">Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousin MA,
|
||
Creighton BA,
|
||
Breau KA,
|
||
Spillmann RC,
|
||
Torti E,
|
||
Dontu S,
|
||
Tripathi S,
|
||
Ajit D,
|
||
Edwards RJ,
|
||
Afriyie S,
|
||
Bay JC,
|
||
Harper KM,
|
||
Beltran AA,
|
||
Munoz LJ,
|
||
Falcon Rodriguez L,
|
||
Stankewich MC,
|
||
Person RE,
|
||
Si Y,
|
||
Normand EA,
|
||
Blevins A,
|
||
May AS,
|
||
Bier L,
|
||
Aggarwal V,
|
||
Mancini GMS,
|
||
van Slegtenhorst MA,
|
||
Cremer K,
|
||
Becker J,
|
||
Engels H,
|
||
Aretz S,
|
||
MacKenzie JJ,
|
||
Brilstra E,
|
||
van Gassen KLI,
|
||
van Jaarsveld RH,
|
||
Oegema R,
|
||
Parsons GM,
|
||
Mark P,
|
||
Helbig I,
|
||
McKeown SE,
|
||
Stratton R,
|
||
Cogne B,
|
||
Isidor B,
|
||
Cacheiro P,
|
||
Smedley D,
|
||
Firth HV,
|
||
Bierhals T,
|
||
Kloth K,
|
||
Weiss D,
|
||
Fairley C,
|
||
Shieh JT,
|
||
Kritzer A,
|
||
Jayakar P,
|
||
Kurtz-Nelson E,
|
||
Bernier RA,
|
||
Wang T,
|
||
Eichler EE,
|
||
van de Laar IMBH,
|
||
McConkie-Rosell A,
|
||
McDonald MT,
|
||
Kemppainen J,
|
||
Lanpher BC,
|
||
Schultz-Rogers LE,
|
||
Gunderson LB,
|
||
Pichurin PN,
|
||
Yoon G,
|
||
Zech M,
|
||
Jech R,
|
||
Winkelmann J;
|
||
Undiagnosed Diseases Network;
|
||
Genomics England Research Consortium,
|
||
Beltran AS,
|
||
Zimmermann MT,
|
||
Temple B,
|
||
Moy SS,
|
||
Klee EW,
|
||
Tan QK,
|
||
Lorenzo DN</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2021 Jul;53(7):1006-1021.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1038/s41588-021-00886-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34211179" target="_blank">34211179</a><a href="/pmc/articles/PMC8273149" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32730804">Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fliedner A,
|
||
Kirchner P,
|
||
Wiesener A,
|
||
van de Beek I,
|
||
Waisfisz Q,
|
||
van Haelst M,
|
||
Scott DA,
|
||
Lalani SR,
|
||
Rosenfeld JA,
|
||
Azamian MS,
|
||
Xia F,
|
||
Dutra-Clarke M,
|
||
Martinez-Agosto JA,
|
||
Lee H;
|
||
UCLA Clinical Genomics Center,
|
||
Noh GJ,
|
||
Lippa N,
|
||
Alkelai A,
|
||
Aggarwal V,
|
||
Agre KE,
|
||
Gavrilova R,
|
||
Mirzaa GM,
|
||
Straussberg R,
|
||
Cohen R,
|
||
Horist B,
|
||
Krishnamurthy V,
|
||
McWalter K,
|
||
Juusola J,
|
||
Davis-Keppen L,
|
||
Ohden L,
|
||
van Slegtenhorst M,
|
||
de Man SA,
|
||
Ekici AB,
|
||
Gregor A,
|
||
van de Laar I,
|
||
Zweier C</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2020 Sep 3;107(3):544-554.
|
||
Epub 2020 Jul 29
|
||
doi: 10.1016/j.ajhg.2020.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32730804" target="_blank">32730804</a><a href="/pmc/articles/PMC7477272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (410)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38818797">Natural history of adults with KBG syndrome: A physician-reported experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
|
||
Grimes H,
|
||
de Boer E,
|
||
Herlin MK,
|
||
Dahl RS,
|
||
Lund ICB,
|
||
Bayat M,
|
||
Bolund ACS,
|
||
Gjerulfsen CE,
|
||
Gregersen PA,
|
||
Zilmer M,
|
||
Juhl S,
|
||
Cebula K,
|
||
Rahikkala E,
|
||
Maystadt I,
|
||
Peron A,
|
||
Vignoli A,
|
||
Alfano RM,
|
||
Stanzial F,
|
||
Benedicenti F,
|
||
Currò A,
|
||
Luk HM,
|
||
Jouret G,
|
||
Zurita E,
|
||
Heuft L,
|
||
Schnabel F,
|
||
Busche A,
|
||
Veenstra-Knol HE,
|
||
Tkemaladze T,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Platzer K,
|
||
Ockeloen CW,
|
||
Goel H,
|
||
Low KJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Aug;26(8):101170.
|
||
Epub 2024 May 27
|
||
doi: 10.1016/j.gim.2024.101170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38818797" target="_blank">38818797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34033258">Neurodevelopmental origins of self-limiting rolandic epilepsy: Systematic review of MR imaging studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith SDW,
|
||
Smith AB,
|
||
Richardson MP,
|
||
Pal DK</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2021 Jun;6(2):310-322.
|
||
Epub 2021 Mar 2
|
||
doi: 10.1002/epi4.12468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34033258" target="_blank">34033258</a><a href="/pmc/articles/PMC8166787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33919646">Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnoli C,
|
||
Fusco C,
|
||
Percesepe A,
|
||
Leuzzi V,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 18;22(8)
|
||
doi: 10.3390/ijms22084202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33919646" target="_blank">33919646</a><a href="/pmc/articles/PMC8072943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879555">Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolevzon A,
|
||
Delaby E,
|
||
Berry-Kravis E,
|
||
Buxbaum JD,
|
||
Betancur C</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2019;10:50.
|
||
Epub 2019 Dec 24
|
||
doi: 10.1186/s13229-019-0291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879555" target="_blank">31879555</a><a href="/pmc/articles/PMC6930682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5561979%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5561979%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619517" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600580" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1182[geneid]" target="_blank">View CLCN3 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619517" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/neurodevelopmental_disorder_with_seizures_and_brain_abnormalities" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Neurodevelopmental%20disorder%20with%20seizures%20and%20brain%20abnormalities%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794189" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1794189" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1794189" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1794189" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1794189" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1794189" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1794189" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc46bf84f3725e59c9a6e1">Neurodevelopmental disorder with seizures and brain abnormalities</a>
|
||
<div class="ralinkpop offscreen_noflow">Neurodevelopmental disorder with seizures and brain abnormalities<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc46bda68b6b5afc01383c">C5561979[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc46bbb15b832ebc8559e3">C4748127[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(4)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C4748127[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc46baa68b6b5afc012642">Neurodevelopmental disorder with regression, abnormal movements, loss of speech,...</a>
|
||
<div class="ralinkpop offscreen_noflow">Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc46b8a68b6b5afc011a8a">C4748127[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="NCBIBreadcrumbs"/>
|
||
<component id="NCBIHelpDesk"/>-->
|
||
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=medgen&ncbi_pdid=FullReport&ncbi_phid=CE8B58577CC454F10000000000130010" /></noscript>
|
||
</div>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
|
||
<defs><style>.cls-1{fill:#737373;}</style></defs>
|
||
<title>NCBI Insights Blog</title>
|
||
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
|
||
</svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Facebook</title>
|
||
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
|
||
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
|
||
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1086">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Youtube</title>
|
||
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
|
||
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
|
||
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1101">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br />
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
|
||
</div>
|
||
|
||
</div>
|
||
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value="C5561979[conceptid]" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="35098" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
|
||
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="medgen" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/Phenotype/MedGen/MedGen@6.14" disabled="disabled" type="hidden" /></form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<!-- CE8B5AF87C7FFCB1_0191SID /projects/Phenotype/MedGen/MedGen@6.14 portal104 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
||
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
||
|
||
|
||
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
|
||
</html> |