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<meta name="keywords" content="C5231410, dee79, developmental and epileptic encephalopathy 79, developmental and epileptic encephalopathy, 79, disease or syndrome, eiee79, epileptic encephalopathy, early infantile, 79, gabra5, 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-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019). 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=1684738
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||
ConceptID=C5231410
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 79<span class="h1sub">(EIEE79; DEE79)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684738</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:">C5231410</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79</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="GABRA5 - ID: 2558 - NCBI Gene" href="/gene/2558" class="medgenPMinfo">GABRA5</a> (15q12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032813" target="_blank">MONDO:0032813</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618559" target="_blank">618559</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-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019). 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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<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_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%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_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_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%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_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_861697"><div><strong>Migrating focal seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861697</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.">C4013260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/861697">Feature record</a> | <a href="/medgen?term=%22Migrating%20focal%20seizure%22%5BClinical%20Features%5D%20OR%20861697%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867226"><div><strong>Frontotemporal cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867226</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.">C4021584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867226">Feature record</a> | <a href="/medgen?term=%22Frontotemporal%20cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20867226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892446"><div><strong>CNS hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892446</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.">C4025616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892446">Feature record</a> | <a href="/medgen?term=%22CNS%20hypomyelination%22%5BClinical%20Features%5D%20OR%20892446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368929"><div><strong>Bilateral tonic-clonic seizure with generalized onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368929</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.">C4476643</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 with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368929">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20generalized%20onset%22%5BClinical%20Features%5D%20OR%201368929%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%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_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_1368929" 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 generalized onset</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal cerebral 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_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</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_861697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migrating focal seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38953796">Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuccurullo C,
|
||
Cerulli Irelli E,
|
||
Ugga L,
|
||
Riva A,
|
||
D'Amico A,
|
||
Cabet S,
|
||
Lesca G,
|
||
Bilo L,
|
||
Zara F,
|
||
Iliescu C,
|
||
Barca D,
|
||
Fung F,
|
||
Helbig K,
|
||
Ortiz-Gonzalez X,
|
||
Schelhaas HJ,
|
||
Willemsen MH,
|
||
van der Linden I,
|
||
Canafoglia L,
|
||
Courage C,
|
||
Gommaraschi S,
|
||
Gonzalez-Alegre P,
|
||
Bardakjian T,
|
||
Syrbe S,
|
||
Schuler E,
|
||
Lemke JR,
|
||
Vari S,
|
||
Roende G,
|
||
Bak M,
|
||
Huq M,
|
||
Powis Z,
|
||
Johannesen KM,
|
||
Hammer TB,
|
||
Møller RS,
|
||
Rabin R,
|
||
Pappas J,
|
||
Zupanc ML,
|
||
Zadeh N,
|
||
Cohen J,
|
||
Naidu S,
|
||
Krey I,
|
||
Saneto R,
|
||
Thies J,
|
||
Licchetta L,
|
||
Tinuper P,
|
||
Bisulli F,
|
||
Minardi R,
|
||
Bayat A,
|
||
Villeneuve N,
|
||
Molinari F,
|
||
Salimi Dafsari H,
|
||
Moller B,
|
||
Le Roux M,
|
||
Houdayer C,
|
||
Vecchi M,
|
||
Mammi I,
|
||
Fiorini E,
|
||
Proietti J,
|
||
Ferri S,
|
||
Cantalupo G,
|
||
Battaglia DI,
|
||
Gambardella ML,
|
||
Contaldo I,
|
||
Brogna C,
|
||
Trivisano M,
|
||
De Dominicis A,
|
||
Bova SM,
|
||
Gardella E,
|
||
Striano P,
|
||
Coppola A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Sep;65(9):2728-2750.
|
||
Epub 2024 Jul 2
|
||
doi: 10.1111/epi.18054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38953796" target="_blank">38953796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38802994">Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conecker G,
|
||
Xia MY,
|
||
Hecker J,
|
||
Achkar C,
|
||
Cukiert C,
|
||
Devries S,
|
||
Donner E,
|
||
Fitzgerald MP,
|
||
Gardella E,
|
||
Hammer M,
|
||
Hegde A,
|
||
Hu C,
|
||
Kato M,
|
||
Luo T,
|
||
Schreiber JM,
|
||
Wang Y,
|
||
Kooistra T,
|
||
Oudin M,
|
||
Waldrop K,
|
||
Youngquist JT,
|
||
Zhang D,
|
||
Wirrell E,
|
||
Perry MS</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Aug;65(8):2322-2338.
|
||
Epub 2024 May 27
|
||
doi: 10.1111/epi.17992.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38802994" target="_blank">38802994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2079)%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 (11)</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/36750385">Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donnan AM,
|
||
Schneider AL,
|
||
Russ-Hall S,
|
||
Churilov L,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Apr 18;100(16):e1712-e1722.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1212/WNL.0000000000207080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36750385" target="_blank">36750385</a><a href="/pmc/articles/PMC10115508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36734057">Perampanel as precision therapy in rare genetic epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nissenkorn A,
|
||
Kluger G,
|
||
Schubert-Bast S,
|
||
Bayat A,
|
||
Bobylova M,
|
||
Bonanni P,
|
||
Ceulemans B,
|
||
Coppola A,
|
||
Di Bonaventura C,
|
||
Feucht M,
|
||
Fuchs A,
|
||
Gröppel G,
|
||
Heimer G,
|
||
Herdt B,
|
||
Kulikova S,
|
||
Mukhin K,
|
||
Nicassio S,
|
||
Orsini A,
|
||
Panagiotou M,
|
||
Pringsheim M,
|
||
Puest B,
|
||
Pylaeva O,
|
||
Ramantani G,
|
||
Tsekoura M,
|
||
Ricciardelli P,
|
||
Lerman Sagie T,
|
||
Stark B,
|
||
Striano P,
|
||
van Baalen A,
|
||
De Wachter M,
|
||
Cerulli Irelli E,
|
||
Cuccurullo C,
|
||
von Stülpnagel C,
|
||
Russo A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Apr;64(4):866-874.
|
||
Epub 2023 Feb 20
|
||
doi: 10.1111/epi.17530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36734057" target="_blank">36734057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2079%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 (110)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36750385">Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donnan AM,
|
||
Schneider AL,
|
||
Russ-Hall S,
|
||
Churilov L,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Apr 18;100(16):e1712-e1722.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1212/WNL.0000000000207080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36750385" target="_blank">36750385</a><a href="/pmc/articles/PMC10115508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36581463">Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
|
||
Stanley J,
|
||
Scheffer IE,
|
||
Sadleir LG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Mar 28;100(13):e1363-e1375.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1212/WNL.0000000000206758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36581463" target="_blank">36581463</a><a href="/pmc/articles/PMC10065214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28752282">CLOVE Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasinathan A,
|
||
Sankhyan N,
|
||
Ahuja CK,
|
||
Singhi P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2018 Jan;85(1):79-80.
|
||
Epub 2017 Jul 28
|
||
doi: 10.1007/s12098-017-2416-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28752282" target="_blank">28752282</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2079%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 (80)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37458529">Epilepsy surgery in early infancy: A retrospective, multicenter study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makridis KL,
|
||
Klotz KA,
|
||
Ramantani G,
|
||
Becker LL,
|
||
San Antonio-Arce V,
|
||
Syrbe S,
|
||
Wagner K,
|
||
Shah MJ,
|
||
Thomale UW,
|
||
Tietze A,
|
||
Elger CE,
|
||
Borggraefe I,
|
||
Kaindl AM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Sep;8(3):1182-1189.
|
||
Epub 2023 Jul 23
|
||
doi: 10.1002/epi4.12791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37458529" target="_blank">37458529</a><a href="/pmc/articles/PMC10472416" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36734057">Perampanel as precision therapy in rare genetic epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nissenkorn A,
|
||
Kluger G,
|
||
Schubert-Bast S,
|
||
Bayat A,
|
||
Bobylova M,
|
||
Bonanni P,
|
||
Ceulemans B,
|
||
Coppola A,
|
||
Di Bonaventura C,
|
||
Feucht M,
|
||
Fuchs A,
|
||
Gröppel G,
|
||
Heimer G,
|
||
Herdt B,
|
||
Kulikova S,
|
||
Mukhin K,
|
||
Nicassio S,
|
||
Orsini A,
|
||
Panagiotou M,
|
||
Pringsheim M,
|
||
Puest B,
|
||
Pylaeva O,
|
||
Ramantani G,
|
||
Tsekoura M,
|
||
Ricciardelli P,
|
||
Lerman Sagie T,
|
||
Stark B,
|
||
Striano P,
|
||
van Baalen A,
|
||
De Wachter M,
|
||
Cerulli Irelli E,
|
||
Cuccurullo C,
|
||
von Stülpnagel C,
|
||
Russo A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2023 Apr;64(4):866-874.
|
||
Epub 2023 Feb 20
|
||
doi: 10.1111/epi.17530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36734057" target="_blank">36734057</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/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/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
|
||
Kossoff EH,
|
||
Eschbach K,
|
||
Joshi C</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jan;62(1):120-127.
|
||
Epub 2020 Nov 14
|
||
doi: 10.1111/epi.16752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2079%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 (42)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/34416421">Postoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liu Q,
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2021 Nov;92:29-35.
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Epub 2021 Aug 14
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/34416421" target="_blank">34416421</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33190223">Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
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2021 Jan;62(1):120-127.
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Epub 2020 Nov 14
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<span class="bold">PMID: </span><a href="/pubmed/33190223" target="_blank">33190223</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31563496">Risk and risk factors for epilepsy in shunt-treated children with hydrocephalus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schubert-Bast S,
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<span class="bold">PMID: </span><a href="/pubmed/31563496" target="_blank">31563496</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28041798">Early seizures predict the development of epilepsy in children and adolescents with stroke.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Breitweg I,
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Stülpnagel CV,
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2017 May;21(3):465-467.
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<div class="nl"><a target="_blank" href="/pubmed/17241230">The development of intellectual abilities in pediatric temporal lobe epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cormack F,
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Cross JH,
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Isaacs E,
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Harkness W,
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Wright I,
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<span class="bold">PMID: </span><a href="/pubmed/17241230" target="_blank">17241230</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2079%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 (48)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38953796">Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.</a></div>
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Le Roux M,
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Contaldo I,
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2024 Sep;65(9):2728-2750.
|
||
Epub 2024 Jul 2
|
||
doi: 10.1111/epi.18054.
|
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<span class="bold">PMID: </span><a href="/pubmed/38953796" target="_blank">38953796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38290094">Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sanders MW,
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Aronica E,
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Rheims S,
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Duncan JS,
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De Tisi J,
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Jacques TS,
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Cross JH,
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Kalviainen R,
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Devaux BC,
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Di Gennaro G,
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Esposito V,
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Bodi I,
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Honavar M,
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Bien CG,
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Cloppenborg T,
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Coras R,
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Hamer HM,
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Marusic P,
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Kalina A,
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Pieper T,
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Kudernatsch M,
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Hartlieb TS,
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Von Oertzen TJ,
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Aichholzer M,
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Dorfmuller G,
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Chipaux M,
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Noachtar S,
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Kaufmann E,
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Scheiwe CF,
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Özkara C,
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Grunwald T,
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Koenig K,
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Guerrini R,
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Barba C,
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Buccoliero AM,
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Giordano F,
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Rosenow F,
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Menzler K,
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Garbelli R,
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Deleo F,
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Straka B,
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Toulouse J,
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Theys T,
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Loução De Amorim IM,
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Specchio N,
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Feucht M,
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Gil-Nagel A,
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Schijns O,
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Beckervordersandforth J,
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San Antonio-Arce V,
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Rumia J,
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Blumcke I,
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Braun KP;
|
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as the European Epilepsy Brain Bank Consortium (EEBB)</span><br />
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<span class="medgenPMjournal">Neurology</span>
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||
2024 Feb 27;102(4):e208007.
|
||
Epub 2024 Jan 30
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doi: 10.1212/WNL.0000000000208007.
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||
<span class="bold">PMID: </span><a href="/pubmed/38290094" target="_blank">38290094</a><a href="/pmc/articles/PMC10962914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36750385">Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donnan AM,
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Schneider AL,
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Russ-Hall S,
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Churilov L,
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Scheffer IE</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2023 Apr 18;100(16):e1712-e1722.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1212/WNL.0000000000207080.
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||
<span class="bold">PMID: </span><a href="/pubmed/36750385" target="_blank">36750385</a><a href="/pmc/articles/PMC10115508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36196777">Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
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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,
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Guerrini R,
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Zuberi SM,
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Nabbout R,
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Riney K,
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Agarwal A,
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Lock M,
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Dai D,
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Farfel GM,
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Galer BS,
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Gammaitoni AR,
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Polega S,
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Davis R,
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Gil-Nagel A</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2023 Jan;64(1):139-151.
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||
Epub 2022 Nov 9
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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,
|
||
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,
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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.
|
||
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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2079%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 (63)</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/38820673">Surgical treatment of epileptic encephalopathy with spike-and-wave activation in sleep: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma Y,
|
||
Kaminski M,
|
||
Kim A</span><br />
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||
<span class="medgenPMjournal">Seizure</span>
|
||
2024 Jul;119:78-83.
|
||
Epub 2024 May 19
|
||
doi: 10.1016/j.seizure.2024.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38820673" target="_blank">38820673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36279113">Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava S,
|
||
Lewis SA,
|
||
Cohen JS,
|
||
Zhang B,
|
||
Aravamuthan BR,
|
||
Chopra M,
|
||
Sahin M,
|
||
Kruer MC,
|
||
Poduri A</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2022 Dec 1;79(12):1287-1295.
|
||
doi: 10.1001/jamaneurol.2022.3549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36279113" target="_blank">36279113</a><a href="/pmc/articles/PMC9593320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36183177">Minimally invasive procedures for hypothalamic hamartoma-related epilepsy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iranmehr A,
|
||
Dabbagh Ohadi MA,
|
||
Chavoshi M,
|
||
Jahanbakhshi A,
|
||
Slavin KV</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2022 Oct;53(4):E8.
|
||
doi: 10.3171/2022.7.FOCUS22296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36183177" target="_blank">36183177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33094492">Antenatal diagnosis of fetal intraventricular hemorrhage: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunbar MJ,
|
||
Woodward K,
|
||
Leijser LM,
|
||
Kirton A</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2021 Feb;63(2):144-155.
|
||
Epub 2020 Oct 22
|
||
doi: 10.1111/dmcn.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33094492" target="_blank">33094492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25339211">Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevalainen O,
|
||
Ansakorpi H,
|
||
Simola M,
|
||
Raitanen J,
|
||
Isojärvi J,
|
||
Artama M,
|
||
Auvinen A</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
||
2014 Nov 18;83(21):1968-77.
|
||
Epub 2014 Oct 22
|
||
doi: 10.1212/WNL.0000000000001005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25339211" target="_blank">25339211</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2079%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 (8)</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">
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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 mgSection" id="ID_106">
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5231410%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5231410%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C5231410%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5231410%5bDISCUI%5d" target="_blank">See all (4)</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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