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<meta name="keywords" content="C3150987, dee11, developmental and epileptic encephalopathy 11, developmental and epileptic encephalopathy, 11, disease or syndrome, early infantile epileptic encephalopathy 11, early infantile epileptic encephalopathy caused by mutation in scn2a, eiee11, epileptic encephalopathy, early infantile, 11, epileptic encephalopathy, early infantile, type 11, scn2a, scn2a early infantile epileptic encephalopathy, 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-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by Ogiwara et al., 2009; Howell et al., 2015; Wolff et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=462337
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ConceptID=C3150987
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 11<span class="h1sub">(DEE11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3150987</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DEE11; Early infantile epileptic encephalopathy 11</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="SCN2A - ID: 6326 - NCBI Gene" href="/gene/6326" class="medgenPMinfo">SCN2A</a> (2q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013388" target="_blank">MONDO:0013388</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613721" target="_blank">613721</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<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-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by Ogiwara et al., 2009; Howell et al., 2015; Wolff et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</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.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%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_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</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.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66840"><div><strong>Global brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66840</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.">C0241816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66840">Feature record</a> | <a href="/medgen?term=%22Global%20brain%20atrophy%22%5BClinical%20Features%5D%20OR%2066840%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98433"><div><strong>Spastic tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98433</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.">C0426970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paralysis affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98433">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraplegia%22%5BClinical%20Features%5D%20OR%2098433%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_164077"><div><strong>Bilateral tonic-clonic seizure with focal onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164077</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.">C0877017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164077">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20focal%20onset%22%5BClinical%20Features%5D%20OR%20164077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854367"><div><strong>Hyperkinetic movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854367</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.">C3887506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Motor hyperactivity with excessive movement of muscles of the body as a whole.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854367">Feature record</a> | <a href="/medgen?term=%22Hyperkinetic%20movements%22%5BClinical%20Features%5D%20OR%20854367%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure with focal onset</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_66840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global brain atrophy</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_854367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkinetic movements</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_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</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></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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150987[DISCUI]&test_type=Clinical" ref="ncbi_uid=462337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462337" target="_blank" href="/omim/182390">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=462337" ref="ncbi_uid=462337">V</a></span></span><span class="TLline">Developmental and epileptic encephalopathy, 11</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842890" ref="tree=MeSH" title="MedGen record for ARX-related epileptic encephalopathy">ARX-related epileptic encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1637882" ref="tree=MeSH" title="MedGen record for Infantile epileptic dyskinetic encephalopathy">Infantile epileptic dyskinetic encephalopathy</a></span><ul><li><span class="matched_ds">Developmental and epileptic encephalopathy, 11</span></li></ul></li></ul></li></ul></div></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/34882995">Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardenal-Muñoz E,
|
||
Auvin S,
|
||
Villanueva V,
|
||
Cross JH,
|
||
Zuberi SM,
|
||
Lagae L,
|
||
Aibar JÁ</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2022 Mar;7(1):11-26.
|
||
Epub 2021 Dec 19
|
||
doi: 10.1002/epi4.12569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34882995" target="_blank">34882995</a><a href="/pmc/articles/PMC8886070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
||
Wain KE,
|
||
Eisenhauer N,
|
||
Wagner M,
|
||
Savatt JM,
|
||
Müller-Schlüter K,
|
||
Bassan H,
|
||
Borovikov A,
|
||
Nassogne MC,
|
||
Destrée A,
|
||
Schoonjans AS,
|
||
Meuwissen M,
|
||
Buzatu M,
|
||
Jansen A,
|
||
Scalais E,
|
||
Srivastava S,
|
||
Tan WH,
|
||
Olson HE,
|
||
Loddenkemper T,
|
||
Poduri A,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Fitzgerald MP,
|
||
Goldberg EM,
|
||
Roser T,
|
||
Borggraefe I,
|
||
Brünger T,
|
||
May P,
|
||
Lal D,
|
||
Lederer D,
|
||
Rubboli G,
|
||
Heyne HO,
|
||
Lesca G,
|
||
Hedrich UBS,
|
||
Benda J,
|
||
Gardella E,
|
||
Lerche H,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Sep 14;145(9):2991-3009.
|
||
doi: 10.1093/brain/awab321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Milh M,
|
||
Castiglioni C,
|
||
Lüthy K,
|
||
Finelli MJ,
|
||
Verstreken P,
|
||
Cardon A,
|
||
Stražišar BG,
|
||
Holder JL Jr,
|
||
Lesca G,
|
||
Mancardi MM,
|
||
Poulat AL,
|
||
Repetto GM,
|
||
Banka S,
|
||
Bilo L,
|
||
Birkeland LE,
|
||
Bosch F,
|
||
Brockmann K,
|
||
Cross JH,
|
||
Doummar D,
|
||
Félix TM,
|
||
Giuliano F,
|
||
Hori M,
|
||
Hüning I,
|
||
Kayserili H,
|
||
Kini U,
|
||
Lees MM,
|
||
Meenakshi G,
|
||
Mewasingh L,
|
||
Pagnamenta AT,
|
||
Peluso S,
|
||
Mey A,
|
||
Rice GM,
|
||
Rosenfeld JA,
|
||
Taylor JC,
|
||
Troester MM,
|
||
Stanley CM,
|
||
Ville D,
|
||
Walkiewicz M,
|
||
Falace A,
|
||
Fassio A,
|
||
Lemke JR,
|
||
Biskup S,
|
||
Tardif J,
|
||
Ajeawung NF,
|
||
Tolun A,
|
||
Corbett M,
|
||
Gecz J,
|
||
Afawi Z,
|
||
Howell KB,
|
||
Oliver KL,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
de Falco FA,
|
||
Oliver PL,
|
||
Striano P,
|
||
Zara F,
|
||
Campeau PM,
|
||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 5;87(1):77-85.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2011)%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 (54)</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/36891340">Global prevalence of developmental disabilities in children and adolescents: A systematic umbrella review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olusanya BO,
|
||
Smythe T,
|
||
Ogbo FA,
|
||
Nair MKC,
|
||
Scher M,
|
||
Davis AC</span><br />
|
||
<span class="medgenPMjournal">Front Public Health</span>
|
||
2023;11:1122009.
|
||
Epub 2023 Feb 16
|
||
doi: 10.3389/fpubh.2023.1122009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36891340" target="_blank">36891340</a><a href="/pmc/articles/PMC9987263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34431999">Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen KM,
|
||
Liu Y,
|
||
Koko M,
|
||
Gjerulfsen CE,
|
||
Sonnenberg L,
|
||
Schubert J,
|
||
Fenger CD,
|
||
Eltokhi A,
|
||
Rannap M,
|
||
Koch NA,
|
||
Lauxmann S,
|
||
Krüger J,
|
||
Kegele J,
|
||
Canafoglia L,
|
||
Franceschetti S,
|
||
Mayer T,
|
||
Rebstock J,
|
||
Zacher P,
|
||
Ruf S,
|
||
Alber M,
|
||
Sterbova K,
|
||
Lassuthová P,
|
||
Vlckova M,
|
||
Lemke JR,
|
||
Platzer K,
|
||
Krey I,
|
||
Heine C,
|
||
Wieczorek D,
|
||
Kroell-Seger J,
|
||
Lund C,
|
||
Klein KM,
|
||
Au PYB,
|
||
Rho JM,
|
||
Ho AW,
|
||
Masnada S,
|
||
Veggiotti P,
|
||
Giordano L,
|
||
Accorsi P,
|
||
Hoei-Hansen CE,
|
||
Striano P,
|
||
Zara F,
|
||
Verhelst H,
|
||
Verhoeven JS,
|
||
Braakman HMH,
|
||
van der Zwaag B,
|
||
Harder AVE,
|
||
Brilstra E,
|
||
Pendziwiat M,
|
||
Lebon S,
|
||
Vaccarezza M,
|
||
Le NM,
|
||
Christensen J,
|
||
Grønborg S,
|
||
Scherer SW,
|
||
Howe J,
|
||
Fazeli W,
|
||
Howell KB,
|
||
Leventer R,
|
||
Stutterd C,
|
||
Walsh S,
|
||
Gerard M,
|
||
Gerard B,
|
||
Matricardi S,
|
||
Bonardi CM,
|
||
Sartori S,
|
||
Berger A,
|
||
Hoffman-Zacharska D,
|
||
Mastrangelo M,
|
||
Darra F,
|
||
Vøllo A,
|
||
Motazacker MM,
|
||
Lakeman P,
|
||
Nizon M,
|
||
Betzler C,
|
||
Altuzarra C,
|
||
Caume R,
|
||
Roubertie A,
|
||
Gélisse P,
|
||
Marini C,
|
||
Guerrini R,
|
||
Bilan F,
|
||
Tibussek D,
|
||
Koch-Hogrebe M,
|
||
Perry MS,
|
||
Ichikawa S,
|
||
Dadali E,
|
||
Sharkov A,
|
||
Mishina I,
|
||
Abramov M,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Kutsev S,
|
||
Wain KE,
|
||
Eisenhauer N,
|
||
Wagner M,
|
||
Savatt JM,
|
||
Müller-Schlüter K,
|
||
Bassan H,
|
||
Borovikov A,
|
||
Nassogne MC,
|
||
Destrée A,
|
||
Schoonjans AS,
|
||
Meuwissen M,
|
||
Buzatu M,
|
||
Jansen A,
|
||
Scalais E,
|
||
Srivastava S,
|
||
Tan WH,
|
||
Olson HE,
|
||
Loddenkemper T,
|
||
Poduri A,
|
||
Helbig KL,
|
||
Helbig I,
|
||
Fitzgerald MP,
|
||
Goldberg EM,
|
||
Roser T,
|
||
Borggraefe I,
|
||
Brünger T,
|
||
May P,
|
||
Lal D,
|
||
Lederer D,
|
||
Rubboli G,
|
||
Heyne HO,
|
||
Lesca G,
|
||
Hedrich UBS,
|
||
Benda J,
|
||
Gardella E,
|
||
Lerche H,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Sep 14;145(9):2991-3009.
|
||
doi: 10.1093/brain/awab321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34431999" target="_blank">34431999</a><a href="/pmc/articles/PMC10147326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
|
||
Kuchenbuch M,
|
||
Barcia G,
|
||
Schneider A,
|
||
Jennesson M,
|
||
Le Guyader G,
|
||
Lesca G,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Parrini E,
|
||
Isnard H,
|
||
Rolland A,
|
||
Keren B,
|
||
Afenjar A,
|
||
Dorison N,
|
||
Sadleir LG,
|
||
Breuillard D,
|
||
Levy R,
|
||
Rio M,
|
||
Dupont S,
|
||
Negrin S,
|
||
Danieli A,
|
||
Scalais E,
|
||
De Saint Martin A,
|
||
El Chehadeh S,
|
||
Chelly J,
|
||
Poisson A,
|
||
Lebre AS,
|
||
Nica A,
|
||
Odent S,
|
||
Sekhara T,
|
||
Brankovic V,
|
||
Goldenberg A,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Maurey H,
|
||
Terrone G,
|
||
Besmond C,
|
||
Hubert L,
|
||
Berquin P,
|
||
Billette de Villemeur T,
|
||
Isidor B,
|
||
Freeman JL,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Howell KB,
|
||
Rodríguez-Sacristán Cascajo A,
|
||
Meyer P,
|
||
Genevieve D,
|
||
Guët A,
|
||
Doummar D,
|
||
Durigneux J,
|
||
van Dooren MF,
|
||
de Wit MCY,
|
||
Gerard M,
|
||
Marey I,
|
||
Munnich A,
|
||
Guerrini R,
|
||
Scheffer IE,
|
||
Kabashi E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2461-2473.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/epi.16679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31926847">Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Liao J</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2020 Jan;24:11-14.
|
||
Epub 2019 Dec 31
|
||
doi: 10.1016/j.ejpn.2019.12.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31926847" target="_blank">31926847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Milh M,
|
||
Castiglioni C,
|
||
Lüthy K,
|
||
Finelli MJ,
|
||
Verstreken P,
|
||
Cardon A,
|
||
Stražišar BG,
|
||
Holder JL Jr,
|
||
Lesca G,
|
||
Mancardi MM,
|
||
Poulat AL,
|
||
Repetto GM,
|
||
Banka S,
|
||
Bilo L,
|
||
Birkeland LE,
|
||
Bosch F,
|
||
Brockmann K,
|
||
Cross JH,
|
||
Doummar D,
|
||
Félix TM,
|
||
Giuliano F,
|
||
Hori M,
|
||
Hüning I,
|
||
Kayserili H,
|
||
Kini U,
|
||
Lees MM,
|
||
Meenakshi G,
|
||
Mewasingh L,
|
||
Pagnamenta AT,
|
||
Peluso S,
|
||
Mey A,
|
||
Rice GM,
|
||
Rosenfeld JA,
|
||
Taylor JC,
|
||
Troester MM,
|
||
Stanley CM,
|
||
Ville D,
|
||
Walkiewicz M,
|
||
Falace A,
|
||
Fassio A,
|
||
Lemke JR,
|
||
Biskup S,
|
||
Tardif J,
|
||
Ajeawung NF,
|
||
Tolun A,
|
||
Corbett M,
|
||
Gecz J,
|
||
Afawi Z,
|
||
Howell KB,
|
||
Oliver KL,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
de Falco FA,
|
||
Oliver PL,
|
||
Striano P,
|
||
Zara F,
|
||
Campeau PM,
|
||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 5;87(1):77-85.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" 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%2011%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 (639)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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,
|
||
Feng T,
|
||
Fons C,
|
||
Lehikoinen A,
|
||
Panagiotakaki E,
|
||
Vintan MA,
|
||
Symonds J,
|
||
Andrew J,
|
||
Arzimanoglou A,
|
||
Delima S,
|
||
Gallois J,
|
||
Hanrahan D,
|
||
Lesca G,
|
||
MacLeod S,
|
||
Marjanovic D,
|
||
McTague A,
|
||
Nuñez-Enamorado N,
|
||
Perez-Palma E,
|
||
Scott Perry M,
|
||
Pysden K,
|
||
Russ-Hall SJ,
|
||
Scheffer IE,
|
||
Sully K,
|
||
Syrbe S,
|
||
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/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,
|
||
Ceulemans B,
|
||
Sullivan JE,
|
||
Nickels KC,
|
||
Lagae L,
|
||
Guerrini R,
|
||
Zuberi SM,
|
||
Nabbout R,
|
||
Riney K,
|
||
Shore S,
|
||
Agarwal A,
|
||
Lock M,
|
||
Farfel GM,
|
||
Galer BS,
|
||
Gammaitoni AR,
|
||
Davis R,
|
||
Gil-Nagel A</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2022 Jun 1;79(6):554-564.
|
||
doi: 10.1001/jamaneurol.2022.0829.
|
||
<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/31926847">Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Liao J</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2020 Jan;24:11-14.
|
||
Epub 2019 Dec 31
|
||
doi: 10.1016/j.ejpn.2019.12.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31926847" target="_blank">31926847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904117">SCN1A-related phenotypes: Epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S17-S24.
|
||
doi: 10.1111/epi.16386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904117" target="_blank">31904117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
||
Pagani G,
|
||
Familiari A,
|
||
Khalil A,
|
||
Sagies TL,
|
||
Malinger G,
|
||
Leibovitz Z,
|
||
Garel C,
|
||
Moutard ML,
|
||
Pilu G,
|
||
Bhide A,
|
||
Acharya G,
|
||
Leombroni M,
|
||
Manzoli L,
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Zara F,
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Verhelst H,
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Verhoeven JS,
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Braakman HMH,
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Harder AVE,
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Brilstra E,
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Vaccarezza M,
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Le NM,
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Grønborg S,
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Scherer SW,
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Howe J,
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Fazeli W,
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Howell KB,
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Leventer R,
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Stutterd C,
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Walsh S,
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Gerard M,
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Gerard B,
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Vøllo A,
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|
||
Epub 2012 Mar 28
|
||
doi: 10.1016/j.ejmg.2012.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22522085" target="_blank">22522085</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2011%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 (381)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37921875">Clinical and functional consequences of GRIA variants in patients with neurological diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">XiangWei W,
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Perszyk RE,
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Liu N,
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Fatemi A,
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Wang T,
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Vogt J,
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Cohen JS,
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Paciorkowski AR,
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Poduri A,
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Zhang Y,
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Wang S,
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Wang Y,
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Zhai Q,
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Fang F,
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Leng J,
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Garber K,
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Myers SJ,
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Jauss RT,
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Park KL,
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Benke TA,
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Lemke JR,
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Yuan H,
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Jiang Y,
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Traynelis SF</span><br />
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<span class="medgenPMjournal">Cell Mol Life Sci</span>
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2023 Nov 3;80(11):345.
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doi: 10.1007/s00018-023-04991-6.
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<span class="bold">PMID: </span><a href="/pubmed/37921875" target="_blank">37921875</a><a href="/pmc/articles/PMC10754216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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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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Schubert-Bast S</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
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2023 Dec;8(4):1256-1270.
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Epub 2023 Oct 11
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doi: 10.1002/epi4.12832.
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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>
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<div class="nl"><a target="_blank" href="/pubmed/35190816">Assessing the landscape of STXBP1-related disorders in 534 individuals.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
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Parthasarathy S,
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Helbig K,
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Gan J,
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Lewis-Smith D,
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Galer P,
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Cosico M,
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Baker K,
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Darling A,
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Veiga de Goes F,
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El Achkar CM,
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Doering JH,
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Furia F,
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García-Cazorla Á,
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Gardella E,
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Geertjens L,
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Klein C,
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Kolesnik-Taylor A,
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Lee J,
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Mackie A,
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Misra-Isrie M,
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Sexton E,
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Smith L,
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Sotero L,
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Stamberger H,
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Thalwitzer KM,
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van Berkel A,
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Prosser B,
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Son Rigby C,
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Pierce S,
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Zhang Y,
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Helbig I</span><br />
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<span class="medgenPMjournal">Brain</span>
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2022 Jun 3;145(5):1668-1683.
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doi: 10.1093/brain/awab327.
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<span class="bold">PMID: </span><a href="/pubmed/35190816" target="_blank">35190816</a><a href="/pmc/articles/PMC9166568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
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<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,
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Malinger G,
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Leibovitz Z,
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Garel C,
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Moutard ML,
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Pilu G,
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Bhide A,
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Acharya G,
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Leombroni M,
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Manzoli L,
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Papageorghiou A,
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Prefumo F</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
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2016 Sep;138(3)
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doi: 10.1542/peds.2016-0445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
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Milh M,
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Castiglioni C,
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Lüthy K,
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Finelli MJ,
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Verstreken P,
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Cardon A,
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Stražišar BG,
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Holder JL Jr,
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Lesca G,
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Mancardi MM,
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Poulat AL,
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Repetto GM,
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Banka S,
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Bilo L,
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Birkeland LE,
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Bosch F,
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Brockmann K,
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Cross JH,
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Doummar D,
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Félix TM,
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Giuliano F,
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Hori M,
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Hüning I,
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Kayserili H,
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Kini U,
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Lees MM,
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Meenakshi G,
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Mewasingh L,
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Pagnamenta AT,
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Peluso S,
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Mey A,
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Rice GM,
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Rosenfeld JA,
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Taylor JC,
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Troester MM,
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Stanley CM,
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Ville D,
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Walkiewicz M,
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Falace A,
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Fassio A,
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Lemke JR,
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Biskup S,
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Tardif J,
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Ajeawung NF,
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Tolun A,
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Corbett M,
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Gecz J,
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Afawi Z,
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Howell KB,
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Oliver KL,
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Berkovic SF,
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Scheffer IE,
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de Falco FA,
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Oliver PL,
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Striano P,
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Zara F,
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Campeau PM,
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Sisodiya SM</span><br />
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<span class="medgenPMjournal">Neurology</span>
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||
2016 Jul 5;87(1):77-85.
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||
Epub 2016 Jun 8
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doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" 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%2011%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 (431)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39360600">Efficacy and safety of stiripentol in the prevention and cessation of status epilepticus: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Auvin S,
|
||
Strzelczyk A,
|
||
Brigo F,
|
||
Villanueva V,
|
||
Trinka E</span><br />
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||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Dec;9(6):2017-2036.
|
||
Epub 2024 Oct 3
|
||
doi: 10.1002/epi4.13036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39360600" target="_blank">39360600</a><a href="/pmc/articles/PMC11633682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36891340">Global prevalence of developmental disabilities in children and adolescents: A systematic umbrella review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olusanya BO,
|
||
Smythe T,
|
||
Ogbo FA,
|
||
Nair MKC,
|
||
Scher M,
|
||
Davis AC</span><br />
|
||
<span class="medgenPMjournal">Front Public Health</span>
|
||
2023;11:1122009.
|
||
Epub 2023 Feb 16
|
||
doi: 10.3389/fpubh.2023.1122009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36891340" target="_blank">36891340</a><a href="/pmc/articles/PMC9987263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36693334">Peri-Insular Hemispherotomy: A Systematic Review and Institutional Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates CF,
|
||
Malone S,
|
||
Riney K,
|
||
Shah U,
|
||
Wood MJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2023;58(1):18-28.
|
||
Epub 2023 Jan 13
|
||
doi: 10.1159/000529098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36693334" target="_blank">36693334</a><a href="/pmc/articles/PMC10064387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33461030">Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharawat IK,
|
||
Panda PK,
|
||
Kasinathan A,
|
||
Panda P,
|
||
Dawman L,
|
||
Joshi K</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 Feb;85:119-126.
|
||
Epub 2021 Jan 11
|
||
doi: 10.1016/j.seizure.2020.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33461030" target="_blank">33461030</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%2011%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 (25)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
<div class=" bottom">
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||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150987%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150987%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150987%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150987%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (46)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150987%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150987%5bDISCUI%5d" target="_blank">See all (50)</a></total></li>
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</ul></div>
|
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</div>
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<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=613721" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2011" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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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