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<meta name="keywords" content="C3554316, dee15, developmental and epileptic encephalopathy 15, developmental and epileptic encephalopathy, 15, disease or syndrome, early infantile epileptic encephalopathy 15, eiee15, epileptic encephalopathy, early infantile, 15, epileptic encephalopathy, early infantile, type 15, st3gal3, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=767230
|
||
ConceptID=C3554316
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 15<span class="h1sub">(DEE15)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767230</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:">C3554316</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>DEE15; Early infantile epileptic encephalopathy 15</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="ST3GAL3 - ID: 6487 - NCBI Gene" href="/gene/6487" class="medgenPMinfo">ST3GAL3</a> (1p34.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014003" target="_blank">MONDO:0014003</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615006" target="_blank">615006</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>
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<div class="portlet mgSection" id="ID_102">
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<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_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_78735"><div><strong>Atonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78735</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.">C0270846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78735">Feature record</a> | <a href="/medgen?term=%22Atonic%20seizure%22%5BClinical%20Features%5D%20OR%2078735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</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.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</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.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</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.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155749"><div><strong>Focal clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155749</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.">C0752323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155749">Feature record</a> | <a href="/medgen?term=%22Focal%20clonic%20seizure%22%5BClinical%20Features%5D%20OR%20155749%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</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.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</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.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</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.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333065"><div><strong>Primitive reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333065</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.">C1838319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333065">Feature record</a> | <a href="/medgen?term=%22Primitive%20reflex%22%5BClinical%20Features%5D%20OR%20333065%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</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.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</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.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%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_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%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 the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_78735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</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_333065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primitive reflex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</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/35490361">International consensus on diagnosis and management of Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirrell EC,
|
||
Hood V,
|
||
Knupp KG,
|
||
Meskis MA,
|
||
Nabbout R,
|
||
Scheffer IE,
|
||
Wilmshurst J,
|
||
Sullivan J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Jul;63(7):1761-1777.
|
||
Epub 2022 May 12
|
||
doi: 10.1111/epi.17274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490361" target="_blank">35490361</a><a href="/pmc/articles/PMC9543220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
||
Wain KE,
|
||
Eisenhauer N,
|
||
Wagner M,
|
||
Savatt JM,
|
||
Müller-Schlüter K,
|
||
Bassan H,
|
||
Borovikov A,
|
||
Nassogne MC,
|
||
Destrée A,
|
||
Schoonjans AS,
|
||
Meuwissen M,
|
||
Buzatu M,
|
||
Jansen A,
|
||
Scalais E,
|
||
Srivastava S,
|
||
Tan WH,
|
||
Olson HE,
|
||
Loddenkemper T,
|
||
Poduri A,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Fitzgerald MP,
|
||
Goldberg EM,
|
||
Roser T,
|
||
Borggraefe I,
|
||
Brünger T,
|
||
May P,
|
||
Lal D,
|
||
Lederer D,
|
||
Rubboli G,
|
||
Heyne HO,
|
||
Lesca G,
|
||
Hedrich UBS,
|
||
Benda J,
|
||
Gardella E,
|
||
Lerche H,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Sep 14;145(9):2991-3009.
|
||
doi: 10.1093/brain/awab321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33479851">Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2021 Jan;35(1):61-83.
|
||
Epub 2021 Jan 21
|
||
doi: 10.1007/s40263-020-00784-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33479851" target="_blank">33479851</a><a href="/pmc/articles/PMC7873005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2015)%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 (48)</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/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35490361">International consensus on diagnosis and management of Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirrell EC,
|
||
Hood V,
|
||
Knupp KG,
|
||
Meskis MA,
|
||
Nabbout R,
|
||
Scheffer IE,
|
||
Wilmshurst J,
|
||
Sullivan J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Jul;63(7):1761-1777.
|
||
Epub 2022 May 12
|
||
doi: 10.1111/epi.17274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490361" target="_blank">35490361</a><a href="/pmc/articles/PMC9543220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33479851">Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2021 Jan;35(1):61-83.
|
||
Epub 2021 Jan 21
|
||
doi: 10.1007/s40263-020-00784-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33479851" target="_blank">33479851</a><a href="/pmc/articles/PMC7873005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26597089">The genetic landscape of the epileptic encephalopathies of infancy and childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McTague A,
|
||
Howell KB,
|
||
Cross JH,
|
||
Kurian MA,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2016 Mar;15(3):304-16.
|
||
Epub 2015 Nov 17
|
||
doi: 10.1016/S1474-4422(15)00250-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26597089" target="_blank">26597089</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=%22Developmental%20and%20epileptic%20encephalopathy%2C%2015%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 (553)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36808730">Genes4Epilepsy: An epilepsy gene resource.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliver KL,
|
||
Scheffer IE,
|
||
Bennett MF,
|
||
Grinton BE,
|
||
Bahlo M,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 May;64(5):1368-1375.
|
||
Epub 2023 Mar 9
|
||
doi: 10.1111/epi.17547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36808730" target="_blank">36808730</a><a href="/pmc/articles/PMC10952165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35490361">International consensus on diagnosis and management of Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirrell EC,
|
||
Hood V,
|
||
Knupp KG,
|
||
Meskis MA,
|
||
Nabbout R,
|
||
Scheffer IE,
|
||
Wilmshurst J,
|
||
Sullivan J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Jul;63(7):1761-1777.
|
||
Epub 2022 May 12
|
||
doi: 10.1111/epi.17274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490361" target="_blank">35490361</a><a href="/pmc/articles/PMC9543220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33522091">Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glinton KE,
|
||
Hurst ACE,
|
||
Bowling KM,
|
||
Cristian I,
|
||
Haynes D,
|
||
Adstamongkonkul D,
|
||
Schnappauf O,
|
||
Beck DB,
|
||
Brewer C,
|
||
Parikh AS,
|
||
Shinde DN,
|
||
Donaldson A,
|
||
Brautbar A,
|
||
Koene S,
|
||
van Haeringen A,
|
||
Piton A,
|
||
Capri Y,
|
||
Furlan M,
|
||
Gardella E,
|
||
Møller RS,
|
||
van de Beek I,
|
||
Zuurbier L,
|
||
Lakeman P,
|
||
Bayat A,
|
||
Martinez J,
|
||
Signer R,
|
||
Torring PM,
|
||
Engelund MB,
|
||
Gripp KW,
|
||
Amlie-Wolf L,
|
||
Henderson LB,
|
||
Midro AT,
|
||
Tarasów E,
|
||
Stasiewicz-Jarocka B,
|
||
Moskal-Jasinska D,
|
||
Vos P,
|
||
Boschann F,
|
||
Stoltenburg C,
|
||
Puk O,
|
||
Mero IL,
|
||
Lossius K,
|
||
Mignot C,
|
||
Keren B,
|
||
Acosta Guio JC,
|
||
Briceño I,
|
||
Gomez A,
|
||
Yang Y,
|
||
Stankiewicz P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 May;185(5):1366-1378.
|
||
Epub 2021 Jan 31
|
||
doi: 10.1002/ajmg.a.62102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33522091" target="_blank">33522091</a><a href="/pmc/articles/PMC8048530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
||
Pagani G,
|
||
Familiari A,
|
||
Khalil A,
|
||
Sagies TL,
|
||
Malinger G,
|
||
Leibovitz Z,
|
||
Garel C,
|
||
Moutard ML,
|
||
Pilu G,
|
||
Bhide A,
|
||
Acharya G,
|
||
Leombroni M,
|
||
Manzoli L,
|
||
Papageorghiou A,
|
||
Prefumo F</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Sep;138(3)
|
||
doi: 10.1542/peds.2016-0445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2015%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 (450)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Trinka E,
|
||
Russo E,
|
||
Del Giovane C,
|
||
Matricardi S,
|
||
Meletti S,
|
||
Striano P,
|
||
Damavandi PT,
|
||
Silvestrini M,
|
||
Brigo F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Oct;83(15):1409-1424.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1007/s40265-023-01936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36196777">Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
|
||
Scheffer IE,
|
||
Ceulemans B,
|
||
Sullivan J,
|
||
Nickels KC,
|
||
Lagae L,
|
||
Guerrini R,
|
||
Zuberi SM,
|
||
Nabbout R,
|
||
Riney K,
|
||
Agarwal A,
|
||
Lock M,
|
||
Dai D,
|
||
Farfel GM,
|
||
Galer BS,
|
||
Gammaitoni AR,
|
||
Polega S,
|
||
Davis R,
|
||
Gil-Nagel A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Jan;64(1):139-151.
|
||
Epub 2022 Nov 9
|
||
doi: 10.1111/epi.17431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36196777" target="_blank">36196777</a><a href="/pmc/articles/PMC10099582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
||
Wain KE,
|
||
Eisenhauer N,
|
||
Wagner M,
|
||
Savatt JM,
|
||
Müller-Schlüter K,
|
||
Bassan H,
|
||
Borovikov A,
|
||
Nassogne MC,
|
||
Destrée A,
|
||
Schoonjans AS,
|
||
Meuwissen M,
|
||
Buzatu M,
|
||
Jansen A,
|
||
Scalais E,
|
||
Srivastava S,
|
||
Tan WH,
|
||
Olson HE,
|
||
Loddenkemper T,
|
||
Poduri A,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Fitzgerald MP,
|
||
Goldberg EM,
|
||
Roser T,
|
||
Borggraefe I,
|
||
Brünger T,
|
||
May P,
|
||
Lal D,
|
||
Lederer D,
|
||
Rubboli G,
|
||
Heyne HO,
|
||
Lesca G,
|
||
Hedrich UBS,
|
||
Benda J,
|
||
Gardella E,
|
||
Lerche H,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Sep 14;145(9):2991-3009.
|
||
doi: 10.1093/brain/awab321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33479851">Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2021 Jan;35(1):61-83.
|
||
Epub 2021 Jan 21
|
||
doi: 10.1007/s40263-020-00784-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33479851" target="_blank">33479851</a><a href="/pmc/articles/PMC7873005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29395273">Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Marsh ED,
|
||
French JA,
|
||
Mazurkiewicz-Beldzinska M,
|
||
Benbadis SR,
|
||
Joshi C,
|
||
Lyons PD,
|
||
Taylor A,
|
||
Roberts C,
|
||
Sommerville K;
|
||
GWPCARE4 Study Group</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2018 Mar 17;391(10125):1085-1096.
|
||
Epub 2018 Jan 26
|
||
doi: 10.1016/S0140-6736(18)30136-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29395273" target="_blank">29395273</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2015%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 (215)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
||
Roth J,
|
||
Andrews JS,
|
||
Shah D,
|
||
Butcher E,
|
||
Jones A,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1240-1263.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1111/epi.17866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34694568">Liquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitlock JH,
|
||
Soelter TM,
|
||
Williams AS,
|
||
Hardigan AA,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/33479851">Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31152643">Different Clinical Expression of Anxiety Disorders in Children and Adolescents: Assessment and Treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pop-Jordanova N</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2015%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 (355)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38818797">Natural history of adults with KBG syndrome: A physician-reported experience.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
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Grimes H,
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de Boer E,
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Herlin MK,
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Dahl RS,
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Lund ICB,
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Bayat M,
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Bolund ACS,
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Gjerulfsen CE,
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Gregersen PA,
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Zilmer M,
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Juhl S,
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Cebula K,
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Rahikkala E,
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Maystadt I,
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Peron A,
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Vignoli A,
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Alfano RM,
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Stanzial F,
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Benedicenti F,
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Currò A,
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Luk HM,
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Jouret G,
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Zurita E,
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Heuft L,
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Schnabel F,
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Busche A,
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Veenstra-Knol HE,
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Tkemaladze T,
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Lederer D,
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2024 Aug;26(8):101170.
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Epub 2024 May 27
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||
<span class="bold">PMID: </span><a href="/pubmed/38818797" target="_blank">38818797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
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Benítez A,
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Roth J,
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Andrews JS,
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Shah D,
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Butcher E,
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Jones A,
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Cross JH</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2024 May;65(5):1240-1263.
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Epub 2024 Jan 22
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
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Trinka E,
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Russo E,
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Del Giovane C,
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Matricardi S,
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Meletti S,
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Striano P,
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Damavandi PT,
|
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Silvestrini M,
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Brigo F</span><br />
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<span class="medgenPMjournal">Drugs</span>
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2023 Oct;83(15):1409-1424.
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Epub 2023 Sep 11
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doi: 10.1007/s40265-023-01936-y.
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||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36693334">Peri-Insular Hemispherotomy: A Systematic Review and Institutional Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates CF,
|
||
Malone S,
|
||
Riney K,
|
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Shah U,
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Wood MJ</span><br />
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<span class="medgenPMjournal">Pediatr Neurosurg</span>
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||
Epub 2023 Jan 13
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||
doi: 10.1159/000529098.
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<span class="bold">PMID: </span><a href="/pubmed/36693334" target="_blank">36693334</a><a href="/pmc/articles/PMC10064387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34922162">Vaccination and childhood epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craiu D,
|
||
Rener Primec Z,
|
||
Lagae L,
|
||
Vigevano F,
|
||
Trinka E,
|
||
Specchio N,
|
||
Bakhtadze S,
|
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Cazacu C,
|
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Golli T,
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Zuberi SM</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2022 Jan;36:57-68.
|
||
Epub 2021 Dec 3
|
||
doi: 10.1016/j.ejpn.2021.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34922162" target="_blank">34922162</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2015%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 (21)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
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<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>
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3554316%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C3554316%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C3554316%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3554316%5bDISCUI%5d" target="_blank">See all (21)</a></total></li>
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||
</ul></div>
|
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</div>
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<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>
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<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=615006" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2015" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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