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<meta name="keywords" content="C4693699, dee62, developmental and epileptic encephalopathy 62, developmental and epileptic encephalopathy, 62, disease or syndrome, early infantile epileptic encephalopathy 62, eiee62, epileptic encephalopathy, early infantile, 62, scn3a, 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="SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1631233
|
||
ConceptID=C4693699
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK570882/bin/scn3a-ndd-Image001.gif" src-large="/books/NBK570882/bin/scn3a-ndd-Image001.jpg" /></a><br /><a href="/books/NBK570882/figure/scn3a-ndd.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK570882/bin/scn3a-ndd-Image002.gif" src-large="/books/NBK570882/bin/scn3a-ndd-Image002.jpg" /></a><br /><a href="/books/NBK570882/figure/scn3a-ndd.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 62<span class="h1sub">(EIEE62; DEE62)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631233</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:">C4693699</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>Early infantile epileptic encephalopathy 62</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="SCN3A - ID: 6328 - NCBI Gene" href="/gene/6328" class="medgenPMinfo">SCN3A</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:0033371" target="_blank">MONDO:0033371</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617938" target="_blank">617938</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK570882" target="_blank">SCN3A-Related Neurodevelopmental Disorder</a></div><div>SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Summary" target="NBK570882">Summary</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Diagnosis" target="NBK570882">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Clinical_Characteristics" target="NBK570882">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Genetically_Related_Allelic_Di" target="NBK570882">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Differential_Diagnosis" target="NBK570882">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Management" target="NBK570882">Management</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Genetic_Counseling" target="NBK570882">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Resources" target="NBK570882">Resources</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Molecular_Genetics" target="NBK570882">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Chapter_Notes" target="NBK570882">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.References" target="NBK570882">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Katherine L Helbig | Ethan M Goldberg <a href="/books/NBK570882" target="NBK570882" title="NCBI Bookshelf: SCN3A-Related Neurodevelopmental Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Developmental and epileptic encephalopathy-62 (DEE62) is a severe neurologic disorder characterized by the onset of various types of refractory seizures in the first weeks or months of life. Affected individuals have severe to profound developmental delay with hypotonia and impaired motor and cognitive development. Additional features may include spasticity, microcephaly, and brain imaging abnormalities (summary by Zaman et al., 2018).
|
||
For a discussion of genetic heterogeneity of DEE, see 308350. <a target="_blank" href="http://www.omim.org/entry/617938">http://www.omim.org/entry/617938</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892362"><div><strong>Gastrostomy tube feeding in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892362</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.">C4023342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Feeding problem necessitating gastrostomy tube feeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892362">Feature record</a> | <a href="/medgen?term=%22Gastrostomy%20tube%20feeding%20in%20infancy%22%5BClinical%20Features%5D%20OR%20892362%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_78605"><div><strong>Polymicrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78605</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.">C0266464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78605">Feature record</a> | <a href="/medgen?term=%22Polymicrogyria%22%5BClinical%20Features%5D%20OR%2078605%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_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_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_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_181756"><div><strong>Abnormal cerebral white matter morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181756</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.">C0948163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the cerebral white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/181756">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cerebral%20white%20matter%20morphology%22%5BClinical%20Features%5D%20OR%20181756%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%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 digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrostomy tube feeding in infancy</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_181756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cerebral white matter morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria</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_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></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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/38258470">Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mao S,
|
||
Yang L,
|
||
Gao Y,
|
||
Zou C</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 Apr;105(4):415-422.
|
||
Epub 2024 Jan 23
|
||
doi: 10.1111/cge.14477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38258470" target="_blank">38258470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33484700">Treatment Practices and Outcomes in Continuous Spike and Wave during Slow Wave Sleep: A Multicenter Collaboration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumer FM,
|
||
McNamara NA,
|
||
Fine AL,
|
||
Pestana-Knight E,
|
||
Shellhaas RA,
|
||
He Z,
|
||
Arndt DH,
|
||
Gaillard WD,
|
||
Kelley SA,
|
||
Nagan M,
|
||
Ostendorf AP,
|
||
Singhal NS,
|
||
Speltz L,
|
||
Chapman KE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2021 May;232:220-228.e3.
|
||
Epub 2021 Jan 20
|
||
doi: 10.1016/j.jpeds.2021.01.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33484700" target="_blank">33484700</a><a href="/pmc/articles/PMC8934740" 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=(developmental%20and%20epileptic%20encephalopathy%2C%2062)%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 (14)</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/35190816">Assessing the landscape of STXBP1-related disorders in 534 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xian J,
|
||
Parthasarathy S,
|
||
Ruggiero SM,
|
||
Balagura G,
|
||
Fitch E,
|
||
Helbig K,
|
||
Gan J,
|
||
Ganesan S,
|
||
Kaufman MC,
|
||
Ellis CA,
|
||
Lewis-Smith D,
|
||
Galer P,
|
||
Cunningham K,
|
||
O'Brien M,
|
||
Cosico M,
|
||
Baker K,
|
||
Darling A,
|
||
Veiga de Goes F,
|
||
El Achkar CM,
|
||
Doering JH,
|
||
Furia F,
|
||
García-Cazorla Á,
|
||
Gardella E,
|
||
Geertjens L,
|
||
Klein C,
|
||
Kolesnik-Taylor A,
|
||
Lammertse H,
|
||
Lee J,
|
||
Mackie A,
|
||
Misra-Isrie M,
|
||
Olson H,
|
||
Sexton E,
|
||
Sheidley B,
|
||
Smith L,
|
||
Sotero L,
|
||
Stamberger H,
|
||
Syrbe S,
|
||
Thalwitzer KM,
|
||
van Berkel A,
|
||
van Haelst M,
|
||
Yuskaitis C,
|
||
Weckhuysen S,
|
||
Prosser B,
|
||
Son Rigby C,
|
||
Demarest S,
|
||
Pierce S,
|
||
Zhang Y,
|
||
Møller RS,
|
||
Bruining H,
|
||
Poduri A,
|
||
Zara F,
|
||
Verhage M,
|
||
Striano P,
|
||
Helbig I</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Jun 3;145(5):1668-1683.
|
||
doi: 10.1093/brain/awab327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35190816" target="_blank">35190816</a><a href="/pmc/articles/PMC9166568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/30706430">A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zombor M,
|
||
Kalmár T,
|
||
Nagy N,
|
||
Berényi M,
|
||
Telcs B,
|
||
Maróti Z,
|
||
Brandau O,
|
||
Sztriha L</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2019 May;60(2):151-162.
|
||
Epub 2019 Feb 1
|
||
doi: 10.1007/s13353-019-00486-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30706430" target="_blank">30706430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28557750">Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aaberg KM,
|
||
Gunnes N,
|
||
Bakken IJ,
|
||
Lund Søraas C,
|
||
Berntsen A,
|
||
Magnus P,
|
||
Lossius MI,
|
||
Stoltenberg C,
|
||
Chin R,
|
||
Surén P</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2017 May;139(5)
|
||
Epub 2017 Apr 5
|
||
doi: 10.1542/peds.2016-3908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28557750" target="_blank">28557750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2062%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 (146)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34748075">MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coursimault J,
|
||
Guerrot AM,
|
||
Morrow MM,
|
||
Schramm C,
|
||
Zamora FM,
|
||
Shanmugham A,
|
||
Liu S,
|
||
Zou F,
|
||
Bilan F,
|
||
Le Guyader G,
|
||
Bruel AL,
|
||
Denommé-Pichon AS,
|
||
Faivre L,
|
||
Tran Mau-Them F,
|
||
Tessarech M,
|
||
Colin E,
|
||
El Chehadeh S,
|
||
Gérard B,
|
||
Schaefer E,
|
||
Cogne B,
|
||
Isidor B,
|
||
Nizon M,
|
||
Doummar D,
|
||
Valence S,
|
||
Héron D,
|
||
Keren B,
|
||
Mignot C,
|
||
Coutton C,
|
||
Devillard F,
|
||
Alaix AS,
|
||
Amiel J,
|
||
Colleaux L,
|
||
Munnich A,
|
||
Poirier K,
|
||
Rio M,
|
||
Rondeau S,
|
||
Barcia G,
|
||
Callewaert B,
|
||
Dheedene A,
|
||
Kumps C,
|
||
Vergult S,
|
||
Menten B,
|
||
Chung WK,
|
||
Hernan R,
|
||
Larson A,
|
||
Nori K,
|
||
Stewart S,
|
||
Wheless J,
|
||
Kresge C,
|
||
Pletcher BA,
|
||
Caumes R,
|
||
Smol T,
|
||
Sigaudy S,
|
||
Coubes C,
|
||
Helm M,
|
||
Smith R,
|
||
Morrison J,
|
||
Wheeler PG,
|
||
Kritzer A,
|
||
Jouret G,
|
||
Afenjar A,
|
||
Deleuze JF,
|
||
Olaso R,
|
||
Boland A,
|
||
Poitou C,
|
||
Frebourg T,
|
||
Houdayer C,
|
||
Saugier-Veber P,
|
||
Nicolas G,
|
||
Lecoquierre F</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2022 Jan;141(1):65-80.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1007/s00439-021-02383-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34748075" target="_blank">34748075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34732400">Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schon KR,
|
||
Horvath R,
|
||
Wei W,
|
||
Calabrese C,
|
||
Tucci A,
|
||
Ibañez K,
|
||
Ratnaike T,
|
||
Pitceathly RDS,
|
||
Bugiardini E,
|
||
Quinlivan R,
|
||
Hanna MG,
|
||
Clement E,
|
||
Ashton E,
|
||
Sayer JA,
|
||
Brennan P,
|
||
Josifova D,
|
||
Izatt L,
|
||
Fratter C,
|
||
Nesbitt V,
|
||
Barrett T,
|
||
McMullen DJ,
|
||
Smith A,
|
||
Deshpande C,
|
||
Smithson SF,
|
||
Festenstein R,
|
||
Canham N,
|
||
Caulfield M,
|
||
Houlden H,
|
||
Rahman S,
|
||
Chinnery PF;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Nov 3;375:e066288.
|
||
doi: 10.1136/bmj-2021-066288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34732400" target="_blank">34732400</a><a href="/pmc/articles/PMC8565085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34041744">CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ernst ME,
|
||
Baugh EH,
|
||
Thomas A,
|
||
Bier L,
|
||
Lippa N,
|
||
Stong N,
|
||
Mulhern MS,
|
||
Kushary S,
|
||
Akman CI,
|
||
Heinzen EL,
|
||
Yeh R,
|
||
Bi W,
|
||
Hanchard NA,
|
||
Burrage LC,
|
||
Leduc MS,
|
||
Chong JSC,
|
||
Bend R,
|
||
Lyons MJ,
|
||
Lee JA,
|
||
Suwannarat P,
|
||
Brilstra E,
|
||
Simon M,
|
||
Koopmans M,
|
||
van Binsbergen E,
|
||
Groepper D,
|
||
Fleischer J,
|
||
Nava C,
|
||
Keren B,
|
||
Mignot C,
|
||
Mathieu S,
|
||
Mancini GMS,
|
||
Madan-Khetarpal S,
|
||
Infante EM,
|
||
Bluvstein J,
|
||
Seeley A,
|
||
Bachman K,
|
||
Klee EW,
|
||
Schultz-Rogers LE,
|
||
Hasadsri L,
|
||
Barnett S,
|
||
Ellingson MS,
|
||
Ferber MJ,
|
||
Narayanan V,
|
||
Ramsey K,
|
||
Rauch A,
|
||
Joset P,
|
||
Steindl K,
|
||
Sheehan T,
|
||
Poduri A,
|
||
Vasquez A,
|
||
Ruivenkamp C,
|
||
White SM,
|
||
Pais L,
|
||
Monaghan KG,
|
||
Goldstein DB,
|
||
Sands TT,
|
||
Aggarwal V</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jul;62(7):e103-e109.
|
||
Epub 2021 May 26
|
||
doi: 10.1111/epi.16931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34041744" target="_blank">34041744</a><a href="/pmc/articles/PMC9189716" 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/28557750">Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aaberg KM,
|
||
Gunnes N,
|
||
Bakken IJ,
|
||
Lund Søraas C,
|
||
Berntsen A,
|
||
Magnus P,
|
||
Lossius MI,
|
||
Stoltenberg C,
|
||
Chin R,
|
||
Surén P</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2017 May;139(5)
|
||
Epub 2017 Apr 5
|
||
doi: 10.1542/peds.2016-3908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28557750" target="_blank">28557750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2062%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 (122)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34287833">Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel AD,
|
||
Mazurkiewicz-Bełdzińska M,
|
||
Chin RF,
|
||
Gil-Nagel A,
|
||
Gunning B,
|
||
Halford JJ,
|
||
Mitchell W,
|
||
Scott Perry M,
|
||
Thiele EA,
|
||
Weinstock A,
|
||
Dunayevich E,
|
||
Checketts D,
|
||
Devinsky O</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Sep;62(9):2228-2239.
|
||
Epub 2021 Jul 20
|
||
doi: 10.1111/epi.17000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34287833" target="_blank">34287833</a></div>
|
||
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2062%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 (67)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36731496">Genetic and clinical variations of developmental epileptic encephalopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nickels K,
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Kossoff EH,
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Eschbach K,
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Joshi C</span><br />
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2021 Jan;62(1):120-127.
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Epub 2020 Nov 14
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doi: 10.1111/epi.16752.
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<div class="nl"><a target="_blank" href="/pubmed/28557750">Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aaberg KM,
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Gunnes N,
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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="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">Patel AD,
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Mazurkiewicz-Bełdzińska M,
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Checketts D,
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Epub 2021 Jul 20
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doi: 10.1111/epi.17000.
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<span class="bold">PMID: </span><a href="/pubmed/34287833" target="_blank">34287833</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33666943">Perampanel and pregnancy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vazquez B,
|
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Tomson T,
|
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Dobrinsky C,
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Schuck E,
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O'Brien TJ</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2021 Mar;62(3):698-708.
|
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doi: 10.1111/epi.16821.
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<span class="bold">PMID: </span><a href="/pubmed/33666943" target="_blank">33666943</a><a href="/pmc/articles/PMC7986165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28557750">Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aaberg KM,
|
||
Gunnes N,
|
||
Bakken IJ,
|
||
Lund Søraas C,
|
||
Berntsen A,
|
||
Magnus P,
|
||
Lossius MI,
|
||
Stoltenberg C,
|
||
Chin R,
|
||
Surén P</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2017 May;139(5)
|
||
Epub 2017 Apr 5
|
||
doi: 10.1542/peds.2016-3908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28557750" target="_blank">28557750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2062%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 (93)</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/39093319">Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gras M,
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Bearden D,
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West J,
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Nabbout R</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
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||
2024 Aug;9(4):1176-1191.
|
||
Epub 2024 Jun 22
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||
doi: 10.1002/epi4.12975.
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<span class="bold">PMID: </span><a href="/pubmed/39093319" target="_blank">39093319</a><a href="/pmc/articles/PMC11296097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38432080">Functional brain connectivity in children with focal epilepsy: A systematic review of functional MRI studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng X,
|
||
Piper RJ,
|
||
Prentice F,
|
||
Clayden JD,
|
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Baldeweg T</span><br />
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<span class="medgenPMjournal">Seizure</span>
|
||
2024 Apr;117:164-173.
|
||
Epub 2024 Feb 28
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||
doi: 10.1016/j.seizure.2024.02.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38432080" target="_blank">38432080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38367369">Neurological outcomes and mortality after neonatal seizures with electroencephalographical verification. A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westergren H,
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||
Finder M,
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Marell-Hesla H,
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Wickström R</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2024 Mar;49:45-54.
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Epub 2024 Feb 12
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doi: 10.1016/j.ejpn.2024.02.005.
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||
<span class="bold">PMID: </span><a href="/pubmed/38367369" target="_blank">38367369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35034187">Efficacy and safety of VNS therapy or continued medication management for treatment of adults with drug-resistant epilepsy: systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Batson S,
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Shankar R,
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Conry J,
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Boggs J,
|
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Radtke R,
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Mitchell S,
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Barion F,
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Murphy J,
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Danielson V</span><br />
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<span class="medgenPMjournal">J Neurol</span>
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2022 Jun;269(6):2874-2891.
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Epub 2022 Jan 16
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doi: 10.1007/s00415-022-10967-6.
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<span class="bold">PMID: </span><a href="/pubmed/35034187" target="_blank">35034187</a><a href="/pmc/articles/PMC9119900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30132269">Efficacy and Safety of Adjunctive Cannabidiol in Patients with Lennox-Gastaut Syndrome: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
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Brigo F,
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Cagnetti C,
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Trinka E,
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Silvestrini M</span><br />
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<span class="medgenPMjournal">CNS Drugs</span>
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<span class="bold">PMID: </span><a href="/pubmed/30132269" target="_blank">30132269</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2062%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 (7)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=C4693699%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693699%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693699%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693699%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
||
</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=617938" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2062" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2062)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Developmental%20and%20epileptic%20encephalopathy%2C%2062%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_62" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Developmental%20and%20epileptic%20encephalopathy,%2062" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16271/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/34081427" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy,%2062%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631233" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4693699[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4693699[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1631233" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc357db15b832ebc30df24">Developmental and epileptic encephalopathy, 62</a>
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<div class="ralinkpop offscreen_noflow">C4693688[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc357a84f3725e5975f3b8">Developmental and epileptic encephalopathy, 61</a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc3578b15b832ebc30c504">C4693688[conceptid] <span class="number">(1)</span></a>
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