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<meta name="keywords" content="C1845102, arhgef9, arhgef9-related hyperekplexia, dee8, developmental and epileptic encephalopathy 8, developmental and epileptic encephalopathy, 8, disease or syndrome, early infantile epileptic encephalopathy 8, eiee8, epileptic encephalopathy, early infantile, 8, epileptic encephalopathy, early infantile, type 8, hyperekplexia and epilepsy, hyperekplexia-epilepsy syndrome, 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="Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=375581
|
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ConceptID=C1845102
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 8<span class="h1sub">(DEE8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375581</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.">C1845102</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>ARHGEF9-Related Hyperekplexia; DEE8; Early infantile epileptic encephalopathy 8; HYPEREKPLEXIA AND EPILEPSY</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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="ARHGEF9 - ID: 23229 - NCBI Gene" href="/gene/23229" class="medgenPMinfo">ARHGEF9</a> (Xq11.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010375" target="_blank">MONDO:0010375</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300607" target="_blank">300607</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163985">ORPHA163985</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">Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<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_376550"><div><strong>Overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376550</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.">C1849265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376550">Feature record</a> | <a href="/medgen?term=%22Overgrowth%22%5BClinical%20Features%5D%20OR%20376550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_543022"><div><strong>Focal impaired awareness seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543022</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.">C0270834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543022">Feature record</a> | <a href="/medgen?term=%22Focal%20impaired%20awareness%20seizure%22%5BClinical%20Features%5D%20OR%20543022%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_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_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_329357"><div><strong>Exaggerated startle response</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329357</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.">C1740801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/329357">Feature record</a> | <a href="/medgen?term=%22Exaggerated%20startle%20response%22%5BClinical%20Features%5D%20OR%20329357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335671"><div><strong>Frontal polymicrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335671</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.">C1847356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335671">Feature record</a> | <a href="/medgen?term=%22Frontal%20polymicrogyria%22%5BClinical%20Features%5D%20OR%20335671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341396"><div><strong>Hypoplasia of the frontal lobes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341396</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.">C1849172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the frontal lobe of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341396">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20frontal%20lobes%22%5BClinical%20Features%5D%20OR%20341396%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82713"><div><strong>Trigonocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82713</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.">C0265535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82713">Feature record</a> | <a href="/medgen?term=%22Trigonocephaly%22%5BClinical%20Features%5D%20OR%2082713%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_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trigonocephaly</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_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_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</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_329357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exaggerated startle response</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_543022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal impaired awareness seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal polymicrogyria</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_341396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the frontal lobes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</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><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overgrowth</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0234166[DISCUI]&test_type=Clinical" ref="ncbi_uid=488800">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=488800">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=488800" ref="ncbi_uid=488800">V</a></span></span><span class="TLline"><a href="/medgen/488800" ref="tree=GTR&ncbi_uid=488800&link_uid=488800" title="View MedGen record for 'Hyperekplexia'">Hyperekplexia</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845102[DISCUI]&test_type=Clinical" ref="ncbi_uid=375581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375581" target="_blank" href="/omim/300429">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=375581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375581" ref="ncbi_uid=375581">V</a></span></span><span class="TLline">Developmental and epileptic encephalopathy, 8</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835614[DISCUI]&test_type=Clinical" ref="ncbi_uid=332019">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332019" target="_blank" href="/omim/149400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332019" ref="ncbi_uid=332019">V</a></span></span><span class="TLline"><a href="/medgen/332019" ref="tree=GTR&ncbi_uid=332019&link_uid=332019" title="View MedGen record for 'Hereditary hyperekplexia'">Hereditary hyperekplexia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551954[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647581" target="_blank" href="/omim/149400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=1647581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647581" ref="ncbi_uid=1647581">V</a></span></span><span class="TLline"><a href="/medgen/1647581" ref="tree=GTR&ncbi_uid=1647581&link_uid=1647581" title="View MedGen record for 'Hyperekplexia 1'">Hyperekplexia 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553291[DISCUI]&test_type=Clinical" ref="ncbi_uid=766205">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766205" target="_blank" href="/omim/138492">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=766205">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766205" ref="ncbi_uid=766205">V</a></span></span><span class="TLline"><a href="/medgen/766205" ref="tree=GTR&ncbi_uid=766205&link_uid=766205" title="View MedGen record for 'Hyperekplexia 2'">Hyperekplexia 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553288[DISCUI]&test_type=Clinical" ref="ncbi_uid=766202">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766202" target="_blank" href="/omim/614618">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=766202">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766202" ref="ncbi_uid=766202">V</a></span></span><span class="TLline"><a href="/medgen/766202" ref="tree=GTR&ncbi_uid=766202&link_uid=766202" title="View MedGen record for 'Hyperekplexia 3'">Hyperekplexia 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693933[DISCUI]&test_type=Clinical" ref="ncbi_uid=1642659">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1642659" target="_blank" href="/omim/614452">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1642659" ref="ncbi_uid=1642659">V</a></span></span><span class="TLline"><a href="/medgen/1642659" ref="tree=GTR&ncbi_uid=1642659&link_uid=1642659" title="View MedGen record for 'Hyperekplexia 4'">Hyperekplexia 4</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/488800" ref="tree=MeSH" title="MedGen record for Hyperekplexia">Hyperekplexia</a></span><ul><li><span class="matched_ds">Developmental and epileptic encephalopathy, 8</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=17561&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Developmental and epileptic encephalopathy, 8</span> in Orphanet.</div></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/37165955">Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langhammer F,
|
||
Maroofian R,
|
||
Badar R,
|
||
Gregor A,
|
||
Rochman M,
|
||
Ratliff JB,
|
||
Koopmans M,
|
||
Herget T,
|
||
Hempel M,
|
||
Kortüm F,
|
||
Heron D,
|
||
Mignot C,
|
||
Keren B,
|
||
Brooks S,
|
||
Botti C,
|
||
Ben-Zeev B,
|
||
Argilli E,
|
||
Sherr EH,
|
||
Gowda VK,
|
||
Srinivasan VM,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Salih MA,
|
||
Kuechler A,
|
||
Muller EA,
|
||
Blocker K,
|
||
Kuismin O,
|
||
Park KL,
|
||
Kochhar A,
|
||
Brown K,
|
||
Ramanathan S,
|
||
Clark RD,
|
||
Elgizouli M,
|
||
Melikishvili G,
|
||
Tabatadze N,
|
||
Stark Z,
|
||
Mirzaa GM,
|
||
Ong J,
|
||
Grasshoff U,
|
||
Bevot A,
|
||
von Wintzingerode L,
|
||
Jamra RA,
|
||
Hennig Y,
|
||
Goldenberg P,
|
||
Al Alam C,
|
||
Charif M,
|
||
Boulouiz R,
|
||
Bellaoui M,
|
||
Amrani R,
|
||
Al Mutairi F,
|
||
Tamim AM,
|
||
Abdulwahab F,
|
||
Alkuraya FS,
|
||
Khouj EM,
|
||
Alvi JR,
|
||
Sultan T,
|
||
Hashemi N,
|
||
Karimiani EG,
|
||
Ashrafzadeh F,
|
||
Imannezhad S,
|
||
Efthymiou S,
|
||
Houlden H,
|
||
Sticht H,
|
||
Zweier C</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Aug;25(8):100885.
|
||
Epub 2023 May 8
|
||
doi: 10.1016/j.gim.2023.100885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165955" target="_blank">37165955</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34102571">CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Roux M,
|
||
Barth M,
|
||
Gueden S,
|
||
Desbordes de Cepoy P,
|
||
Aeby A,
|
||
Vilain C,
|
||
Hirsch E,
|
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de Saint Martin A,
|
||
Portes VD,
|
||
Lesca G,
|
||
Riquet A,
|
||
Chaton L,
|
||
Villeneuve N,
|
||
Villard L,
|
||
Cances C,
|
||
Valton L,
|
||
Renaldo F,
|
||
Vermersch AI,
|
||
Altuzarra C,
|
||
Nguyen-Morel MA,
|
||
Van Gils J,
|
||
Angelini C,
|
||
Biraben A,
|
||
Arnaud L,
|
||
Riant F,
|
||
Van Bogaert P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Jul;33:75-85.
|
||
Epub 2021 May 26
|
||
doi: 10.1016/j.ejpn.2021.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34102571" target="_blank">34102571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26122601">Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilmshurst JM,
|
||
Gaillard WD,
|
||
Vinayan KP,
|
||
Tsuchida TN,
|
||
Plouin P,
|
||
Van Bogaert P,
|
||
Carrizosa J,
|
||
Elia M,
|
||
Craiu D,
|
||
Jovic NJ,
|
||
Nordli D,
|
||
Hirtz D,
|
||
Wong V,
|
||
Glauser T,
|
||
Mizrahi EM,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2015 Aug;56(8):1185-97.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1111/epi.13057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26122601" target="_blank">26122601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%208)%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 (78)</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/36859290">The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Zuberi SM,
|
||
Striano P,
|
||
Rosenow F,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Mar 1;18(1):42.
|
||
doi: 10.1186/s13023-023-02626-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36859290" target="_blank">36859290</a><a href="/pmc/articles/PMC9979426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36271714">3D figure of epilepsy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nabbout R,
|
||
Kuchenbuch M,
|
||
Tinuper P,
|
||
Cross JH,
|
||
Wirrell E</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Mar;8(1):217-220.
|
||
Epub 2022 Nov 10
|
||
doi: 10.1002/epi4.12665.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36271714" target="_blank">36271714</a><a href="/pmc/articles/PMC9978057" target="_blank" class="PubMedFree">Free PMC Article</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/29069555">Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blumcke I,
|
||
Spreafico R,
|
||
Haaker G,
|
||
Coras R,
|
||
Kobow K,
|
||
Bien CG,
|
||
Pfäfflin M,
|
||
Elger C,
|
||
Widman G,
|
||
Schramm J,
|
||
Becker A,
|
||
Braun KP,
|
||
Leijten F,
|
||
Baayen JC,
|
||
Aronica E,
|
||
Chassoux F,
|
||
Hamer H,
|
||
Stefan H,
|
||
Rössler K,
|
||
Thom M,
|
||
Walker MC,
|
||
Sisodiya SM,
|
||
Duncan JS,
|
||
McEvoy AW,
|
||
Pieper T,
|
||
Holthausen H,
|
||
Kudernatsch M,
|
||
Meencke HJ,
|
||
Kahane P,
|
||
Schulze-Bonhage A,
|
||
Zentner J,
|
||
Heiland DH,
|
||
Urbach H,
|
||
Steinhoff BJ,
|
||
Bast T,
|
||
Tassi L,
|
||
Lo Russo G,
|
||
Özkara C,
|
||
Oz B,
|
||
Krsek P,
|
||
Vogelgesang S,
|
||
Runge U,
|
||
Lerche H,
|
||
Weber Y,
|
||
Honavar M,
|
||
Pimentel J,
|
||
Arzimanoglou A,
|
||
Ulate-Campos A,
|
||
Noachtar S,
|
||
Hartl E,
|
||
Schijns O,
|
||
Guerrini R,
|
||
Barba C,
|
||
Jacques TS,
|
||
Cross JH,
|
||
Feucht M,
|
||
Mühlebner A,
|
||
Grunwald T,
|
||
Trinka E,
|
||
Winkler PA,
|
||
Gil-Nagel A,
|
||
Toledano Delgado R,
|
||
Mayer T,
|
||
Lutz M,
|
||
Zountsas B,
|
||
Garganis K,
|
||
Rosenow F,
|
||
Hermsen A,
|
||
von Oertzen TJ,
|
||
Diepgen TL,
|
||
Avanzini G;
|
||
EEBB Consortium</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Oct 26;377(17):1648-1656.
|
||
doi: 10.1056/NEJMoa1703784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29069555" target="_blank">29069555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26423537">Infections, inflammation and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vezzani A,
|
||
Fujinami RS,
|
||
White HS,
|
||
Preux PM,
|
||
Blümcke I,
|
||
Sander JW,
|
||
Löscher W</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2016 Feb;131(2):211-234.
|
||
Epub 2015 Sep 30
|
||
doi: 10.1007/s00401-015-1481-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26423537" target="_blank">26423537</a><a href="/pmc/articles/PMC4867498" 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%208%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 (848)</a></div><h3 class="subhead">Diagnosis</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/35706131">The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Najm I,
|
||
Lal D,
|
||
Alonso Vanegas M,
|
||
Cendes F,
|
||
Lopes-Cendes I,
|
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Palmini A,
|
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Paglioli E,
|
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Sarnat HB,
|
||
Walsh CA,
|
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Wiebe S,
|
||
Aronica E,
|
||
Baulac S,
|
||
Coras R,
|
||
Kobow K,
|
||
Cross JH,
|
||
Garbelli R,
|
||
Holthausen H,
|
||
Rössler K,
|
||
Thom M,
|
||
El-Osta A,
|
||
Lee JH,
|
||
Miyata H,
|
||
Guerrini R,
|
||
Piao YS,
|
||
Zhou D,
|
||
Blümcke I</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Aug;63(8):1899-1919.
|
||
Epub 2022 Jun 15
|
||
doi: 10.1111/epi.17301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35706131" target="_blank">35706131</a><a href="/pmc/articles/PMC9545778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35696452">The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Brünger T,
|
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Feng T,
|
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Fons C,
|
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Lehikoinen A,
|
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Panagiotakaki E,
|
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Vintan MA,
|
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Symonds J,
|
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Andrew J,
|
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Arzimanoglou A,
|
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Delima S,
|
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Gallois J,
|
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Hanrahan D,
|
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Lesca G,
|
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MacLeod S,
|
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Marjanovic D,
|
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McTague A,
|
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Nuñez-Enamorado N,
|
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Perez-Palma E,
|
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Scott Perry M,
|
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Pysden K,
|
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Russ-Hall SJ,
|
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Scheffer IE,
|
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Sully K,
|
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Syrbe S,
|
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Vaher U,
|
||
Velayutham M,
|
||
Vogt J,
|
||
Weiss S,
|
||
Wirrell E,
|
||
Zuberi SM,
|
||
Lal D,
|
||
Møller RS,
|
||
Mantegazza M,
|
||
Cestèle S</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Nov 21;145(11):3816-3831.
|
||
doi: 10.1093/brain/awac210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35696452" target="_blank">35696452</a><a href="/pmc/articles/PMC9679167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31175295">Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata A,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Mizuguchi T,
|
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Mitsuhashi S,
|
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Takahashi Y,
|
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Okamoto N,
|
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Osaka H,
|
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Nakamura K,
|
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Tohyama J,
|
||
Haginoya K,
|
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Takeshita S,
|
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Kuki I,
|
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Okanishi T,
|
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Goto T,
|
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Sasaki M,
|
||
Sakai Y,
|
||
Miyake N,
|
||
Miyatake S,
|
||
Tsuchida N,
|
||
Iwama K,
|
||
Minase G,
|
||
Sekiguchi F,
|
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Fujita A,
|
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Imagawa E,
|
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Koshimizu E,
|
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Uchiyama Y,
|
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Hamanaka K,
|
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Ohba C,
|
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Itai T,
|
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Aoi H,
|
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Saida K,
|
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Sakaguchi T,
|
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Den K,
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Takahashi R,
|
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Ikeda H,
|
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Yamaguchi T,
|
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Tsukamoto K,
|
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Yoshitomi S,
|
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Oboshi T,
|
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Imai K,
|
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Kimizu T,
|
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Kobayashi Y,
|
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Kubota M,
|
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Kashii H,
|
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Baba S,
|
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Iai M,
|
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Kira R,
|
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Hara M,
|
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Ohta M,
|
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Miyata Y,
|
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Miyata R,
|
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Takanashi JI,
|
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Matsui J,
|
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Yokochi K,
|
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Shimono M,
|
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Amamoto M,
|
||
Takayama R,
|
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Hirabayashi S,
|
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Aiba K,
|
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Matsumoto H,
|
||
Nabatame S,
|
||
Shiihara T,
|
||
Kato M,
|
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Matsumoto N</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jun 7;10(1):2506.
|
||
doi: 10.1038/s41467-019-10482-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31175295" target="_blank">31175295</a><a href="/pmc/articles/PMC6555845" 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,
|
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Familiari A,
|
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Khalil A,
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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%208%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 (683)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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,
|
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Ceulemans B,
|
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Sullivan J,
|
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Nickels KC,
|
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Lagae L,
|
||
Guerrini R,
|
||
Zuberi SM,
|
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Nabbout R,
|
||
Riney K,
|
||
Agarwal A,
|
||
Lock M,
|
||
Dai D,
|
||
Farfel GM,
|
||
Galer BS,
|
||
Gammaitoni AR,
|
||
Polega S,
|
||
Davis R,
|
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Gil-Nagel A</span><br />
|
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<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Jan;64(1):139-151.
|
||
Epub 2022 Nov 9
|
||
doi: 10.1111/epi.17431.
|
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<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/35499850">Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
|
||
Scheffer IE,
|
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Ceulemans B,
|
||
Sullivan JE,
|
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Nickels KC,
|
||
Lagae L,
|
||
Guerrini R,
|
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Zuberi SM,
|
||
Nabbout R,
|
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Riney K,
|
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Shore S,
|
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Agarwal A,
|
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Lock M,
|
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Farfel GM,
|
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Galer BS,
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Gammaitoni AR,
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Davis R,
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Gil-Nagel A</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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2022 Jun 1;79(6):554-564.
|
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doi: 10.1001/jamaneurol.2022.0829.
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<span class="bold">PMID: </span><a href="/pubmed/35499850" target="_blank">35499850</a><a href="/pmc/articles/PMC9062770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33565102">Fenfluramine as antiseizure medication for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gogou M,
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Cross JH</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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2021 Aug;63(8):899-907.
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Epub 2021 Feb 9
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doi: 10.1111/dmcn.14822.
|
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<span class="bold">PMID: </span><a href="/pubmed/33565102" target="_blank">33565102</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
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Shaw BJ,
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Burgess R,
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Mei D,
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Montomoli M,
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Xie H,
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Myers CT,
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Bennett MF,
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XiangWei W,
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Williams D,
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Maas SM,
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Brooks AS,
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Mancini GMS,
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van de Laar IMBH,
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van Hagen JM,
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Ware TL,
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Webster RI,
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Malone S,
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Berkovic SF,
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Kalnins RM,
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Sicca F,
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Korenke GC,
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van Ravenswaaij-Arts CMA,
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Hildebrand MS,
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Mefford HC,
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Jiang Y,
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Guerrini R,
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<span class="medgenPMjournal">Neurology</span>
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2019 Jan 8;92(2):e96-e107.
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<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>
|
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|
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
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Marsh ED,
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French JA,
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Mazurkiewicz-Beldzinska M,
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Benbadis SR,
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Joshi C,
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Lyons PD,
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Taylor A,
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Roberts C,
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Sommerville K;
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<span class="medgenPMjournal">Lancet</span>
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2018 Mar 17;391(10125):1085-1096.
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<span class="bold">PMID: </span><a href="/pubmed/29395273" target="_blank">29395273</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%208%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 (357)</a></div><h3 class="subhead">Prognosis</h3>
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<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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<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37977712">Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schoeler NE,
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Marston L,
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Lyons L,
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Halsall S,
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Jain R,
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Titre-Johnson S,
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Balogun M,
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Heales SJR,
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Eaton S,
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Orford M,
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Neal E,
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Reilly C,
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Eltze C,
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Stephen E,
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Mallick AA,
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O'Callaghan F,
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Agrawal S,
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Parker A,
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Kirkpatrick M,
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Brunklaus A,
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McLellan A,
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McCullagh H,
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Samanta R,
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Kneen R,
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Tan HJ,
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Devlin A,
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Prasad M,
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Rattihalli R,
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Basu H,
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Desurkar A,
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Williams R,
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Fallon P,
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<span class="bold">PMID: </span><a href="/pubmed/37977712" target="_blank">37977712</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
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Bjørk MH,
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Alvestad S,
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Gissler M,
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Igland J,
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<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33565102">Fenfluramine as antiseizure medication for epilepsy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gogou M,
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Cross JH</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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2021 Aug;63(8):899-907.
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Epub 2021 Feb 9
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doi: 10.1111/dmcn.14822.
|
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<span class="bold">PMID: </span><a href="/pubmed/33565102" target="_blank">33565102</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/16763856">Hypothalamic hamartomas--clinical, neuropathological and surgical aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maixner W</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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<span class="bold">PMID: </span><a href="/pubmed/16763856" target="_blank">16763856</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%208%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 (444)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37750463">Dravet syndrome: A systematic literature review of the illness burden.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
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Lagae L,
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Wilmshurst JM,
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Brunklaus A,
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Striano P,
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Rosenow F,
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2023 Dec;8(4):1256-1270.
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<span class="bold">PMID: </span><a href="/pubmed/37750463" target="_blank">37750463</a><a href="/pmc/articles/PMC10690674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165955">Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Langhammer F,
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Maroofian R,
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Badar R,
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Gregor A,
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Rochman M,
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Ratliff JB,
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Koopmans M,
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Herget T,
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Hempel M,
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Kortüm F,
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Heron D,
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Mignot C,
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Keren B,
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Brooks S,
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Botti C,
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Ben-Zeev B,
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Argilli E,
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Sherr EH,
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Gowda VK,
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Srinivasan VM,
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Bakhtiari S,
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Kruer MC,
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Salih MA,
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Kuechler A,
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Muller EA,
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Blocker K,
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Kuismin O,
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Park KL,
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Kochhar A,
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Brown K,
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Ramanathan S,
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Clark RD,
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Elgizouli M,
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Melikishvili G,
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Tabatadze N,
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Stark Z,
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Mirzaa GM,
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Ong J,
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Grasshoff U,
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Bevot A,
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von Wintzingerode L,
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Jamra RA,
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Hennig Y,
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Goldenberg P,
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Al Alam C,
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Charif M,
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Boulouiz R,
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Bellaoui M,
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Amrani R,
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Al Mutairi F,
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Tamim AM,
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Abdulwahab F,
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Alkuraya FS,
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Khouj EM,
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Alvi JR,
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Sultan T,
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Hashemi N,
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Karimiani EG,
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Ashrafzadeh F,
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Imannezhad S,
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Efthymiou S,
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Houlden H,
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2023 Aug;25(8):100885.
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Epub 2023 May 8
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doi: 10.1016/j.gim.2023.100885.
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<span class="bold">PMID: </span><a href="/pubmed/37165955" target="_blank">37165955</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/33565102">Fenfluramine as antiseizure medication for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gogou M,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Aug;63(8):899-907.
|
||
Epub 2021 Feb 9
|
||
doi: 10.1111/dmcn.14822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33565102" target="_blank">33565102</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,
|
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Pagani G,
|
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Familiari A,
|
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Khalil A,
|
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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%208%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 (559)</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">
|
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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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Vrielynck P,
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Lederer D,
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Platzer K,
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Ockeloen CW,
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Goel H,
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Low KJ</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2024 Aug;26(8):101170.
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Epub 2024 May 27
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doi: 10.1016/j.gim.2024.101170.
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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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
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Roth J,
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||
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/36859290">The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Zuberi SM,
|
||
Striano P,
|
||
Rosenow F,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Mar 1;18(1):42.
|
||
doi: 10.1186/s13023-023-02626-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36859290" target="_blank">36859290</a><a href="/pmc/articles/PMC9979426" 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/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
||
Cogo E,
|
||
Straus SE,
|
||
Finkelstein Y,
|
||
Kealey R,
|
||
Reynen E,
|
||
Soobiah C,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Hemmelgarn BR,
|
||
Yazdi F,
|
||
D'Souza J,
|
||
MacDonald H,
|
||
Tricco AC</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" 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%208%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 (36)</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=C1845102%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845102%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845102%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845102%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (45)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845102%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1845102%5bDISCUI%5d" target="_blank">See all (48)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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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=300607" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=163985" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%208" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%208)%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(%22Developmental%20and%20epileptic%20encephalopathy%2C%208%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=300429" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23229[geneid]" target="_blank">View ARHGEF9 variations in ClinVar</a></li><li><a href="/nuccore/293597509" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300607" 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="http://www.diseaseinfosearch.org/Epileptic+encephalopathy%2C+early+infantile%2C+8/8346" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_8" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Developmental%20and%20epileptic%20encephalopathy,%208" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17010/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</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/20301437" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy,%208" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy,%208%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" 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=375581" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=375581" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1845102[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1845102[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=375581" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=375581" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=375581" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=375581" ref="log$=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=375581" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=375581" ref="log$=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_bookshelf_cited&from_uid=375581" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=375581" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=375581" 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>
|
||
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|
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<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>
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<div class="portlet_content">
|
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<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
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<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
|
||
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|
||
<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">
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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=67d43c5a67c23b31e0df71c3">Developmental and epileptic encephalopathy, 8</a>
|
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