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<meta name="keywords" content="C4693663, cnpy3, dee60, developmental and epileptic encephalopathy 60, developmental and epileptic encephalopathy, 60, disease or syndrome, eiee60, epileptic encephalopathy, early infantile, 60, 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-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by Mutoh et al., 2018). For 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=1638894
|
||
ConceptID=C4693663
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Developmental and epileptic encephalopathy, 60<span class="h1sub">(EIEE60; DEE60)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638894</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:">C4693663</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, 60</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="CNPY3 - ID: 10695 - NCBI Gene" href="/gene/10695" class="medgenPMinfo">CNPY3</a> (6p21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033369" target="_blank">MONDO:0033369</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617929" target="_blank">617929</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-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by Mutoh et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_66840"><div><strong>Global brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66840</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66840">Feature record</a> | <a href="/medgen?term=%22Global%20brain%20atrophy%22%5BClinical%20Features%5D%20OR%2066840%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_543022"><div><strong>Focal impaired awareness seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543022</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543022">Feature record</a> | <a href="/medgen?term=%22Focal%20impaired%20awareness%20seizure%22%5BClinical%20Features%5D%20OR%20543022%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369943"><div><strong>EEG with burst suppression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369943</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.">C1969156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369943">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20burst%20suppression%22%5BClinical%20Features%5D%20OR%20369943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1611479"><div><strong>Hippocampal malrotation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1611479</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.">C4539733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1611479">Feature record</a> | <a href="/medgen?term=%22Hippocampal%20malrotation%22%5BClinical%20Features%5D%20OR%201611479%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with burst suppression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_543022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal impaired awareness seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global brain atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1611479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hippocampal malrotation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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/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/31904126">Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolff M,
|
||
Brunklaus A,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S59-S67.
|
||
doi: 10.1111/epi.14935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904126" target="_blank">31904126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(developmental%20and%20epileptic%20encephalopathy%2C%2060)%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 (29)</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/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
|
||
Bjørk MH,
|
||
Alvestad S,
|
||
Gissler M,
|
||
Igland J,
|
||
Leinonen MK,
|
||
Sun Y,
|
||
Zoega H,
|
||
Cohen JM,
|
||
Furu K,
|
||
Tomson T,
|
||
Christensen J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jun 1;80(6):568-577.
|
||
doi: 10.1001/jamaneurol.2023.0674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36859290">The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Zuberi SM,
|
||
Striano P,
|
||
Rosenow F,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Mar 1;18(1):42.
|
||
doi: 10.1186/s13023-023-02626-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36859290" target="_blank">36859290</a><a href="/pmc/articles/PMC9979426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15121991">The genetics of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muhle R,
|
||
Trentacoste SV,
|
||
Rapin I</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2004 May;113(5):e472-86.
|
||
doi: 10.1542/peds.113.5.e472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15121991" target="_blank">15121991</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2060%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 (220)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
||
Roth J,
|
||
Andrews JS,
|
||
Shah D,
|
||
Butcher E,
|
||
Jones A,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1240-1263.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1111/epi.17866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
|
||
Bjørk MH,
|
||
Alvestad S,
|
||
Gissler M,
|
||
Igland J,
|
||
Leinonen MK,
|
||
Sun Y,
|
||
Zoega H,
|
||
Cohen JM,
|
||
Furu K,
|
||
Tomson T,
|
||
Christensen J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jun 1;80(6):568-577.
|
||
doi: 10.1001/jamaneurol.2023.0674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/31904117">SCN1A-related phenotypes: Epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S17-S24.
|
||
doi: 10.1111/epi.16386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904117" target="_blank">31904117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15121991">The genetics of autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muhle R,
|
||
Trentacoste SV,
|
||
Rapin I</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2004 May;113(5):e472-86.
|
||
doi: 10.1542/peds.113.5.e472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15121991" target="_blank">15121991</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2060%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 (183)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
|
||
Bjørk MH,
|
||
Alvestad S,
|
||
Gissler M,
|
||
Igland J,
|
||
Leinonen MK,
|
||
Sun Y,
|
||
Zoega H,
|
||
Cohen JM,
|
||
Furu K,
|
||
Tomson T,
|
||
Christensen J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jun 1;80(6):568-577.
|
||
doi: 10.1001/jamaneurol.2023.0674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/31904126">Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolff M,
|
||
Brunklaus A,
|
||
Zuberi SM</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2019 Dec;60 Suppl 3:S59-S67.
|
||
doi: 10.1111/epi.14935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904126" target="_blank">31904126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
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Cogo E,
|
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Straus SE,
|
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Finkelstein Y,
|
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Kealey R,
|
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Reynen E,
|
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Soobiah C,
|
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Thavorn K,
|
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Hutton B,
|
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Hemmelgarn BR,
|
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Yazdi F,
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D'Souza J,
|
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MacDonald H,
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Tricco AC</span><br />
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<span class="medgenPMjournal">BMJ Open</span>
|
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2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23613074">Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen J,
|
||
Grønborg TK,
|
||
Sørensen MJ,
|
||
Schendel D,
|
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Parner ET,
|
||
Pedersen LH,
|
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Vestergaard M</span><br />
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<span class="medgenPMjournal">JAMA</span>
|
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2013 Apr 24;309(16):1696-703.
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doi: 10.1001/jama.2013.2270.
|
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<span class="bold">PMID: </span><a href="/pubmed/23613074" target="_blank">23613074</a><a href="/pmc/articles/PMC4511955" 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%2060%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 (105)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
||
Roth J,
|
||
Andrews JS,
|
||
Shah D,
|
||
Butcher E,
|
||
Jones A,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1240-1263.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1111/epi.17866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37067807">Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreier JW,
|
||
Bjørk MH,
|
||
Alvestad S,
|
||
Gissler M,
|
||
Igland J,
|
||
Leinonen MK,
|
||
Sun Y,
|
||
Zoega H,
|
||
Cohen JM,
|
||
Furu K,
|
||
Tomson T,
|
||
Christensen J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2023 Jun 1;80(6):568-577.
|
||
doi: 10.1001/jamaneurol.2023.0674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067807" target="_blank">37067807</a><a href="/pmc/articles/PMC10111234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34102099">De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Usmani MA,
|
||
Ahmed ZM,
|
||
Magini P,
|
||
Pienkowski VM,
|
||
Rasmussen KJ,
|
||
Hernan R,
|
||
Rasheed F,
|
||
Hussain M,
|
||
Shahzad M,
|
||
Lanpher BC,
|
||
Niu Z,
|
||
Lim FY,
|
||
Pippucci T,
|
||
Ploski R,
|
||
Kraus V,
|
||
Matuszewska K,
|
||
Palombo F,
|
||
Kianmahd J;
|
||
UCLA Clinical Genomics Center,
|
||
Martinez-Agosto JA,
|
||
Lee H,
|
||
Colao E,
|
||
Motazacker MM,
|
||
Brigatti KW,
|
||
Puffenberger EG,
|
||
Riazuddin SA,
|
||
Gonzaga-Jauregui C,
|
||
Chung WK,
|
||
Wagner M,
|
||
Schultz MJ,
|
||
Seri M,
|
||
Kievit AJA,
|
||
Perrotti N,
|
||
Wassink-Ruiter JSK,
|
||
van Bokhoven H,
|
||
Riazuddin S,
|
||
Riazuddin S</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Jul 1;108(7):1330-1341.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1016/j.ajhg.2021.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34102099" target="_blank">34102099</a><a href="/pmc/articles/PMC8322935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904123">Predicting the impact of sodium channel mutations in human brain disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noebels JL</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3(Suppl 3):S8-S16.
|
||
doi: 10.1111/epi.14724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904123" target="_blank">31904123</a><a href="/pmc/articles/PMC6953257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23613074">Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen J,
|
||
Grønborg TK,
|
||
Sørensen MJ,
|
||
Schendel D,
|
||
Parner ET,
|
||
Pedersen LH,
|
||
Vestergaard M</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2013 Apr 24;309(16):1696-703.
|
||
doi: 10.1001/jama.2013.2270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23613074" target="_blank">23613074</a><a href="/pmc/articles/PMC4511955" 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%2060%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 (116)</a></div><h3 class="subhead">Clinical prediction guides</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/35457375">Pharmacovigilance in Pediatric Patients with Epilepsy Using Antiepileptic Drugs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kopciuch D,
|
||
Kus K,
|
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Fliciński J,
|
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Steinborn B,
|
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Winczewska-Wiktor A,
|
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Paczkowska A,
|
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Zaprutko T,
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Ratajczak P,
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Nowakowska E</span><br />
|
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<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Apr 8;19(8)
|
||
doi: 10.3390/ijerph19084509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35457375" target="_blank">35457375</a><a href="/pmc/articles/PMC9028571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34102099">De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Usmani MA,
|
||
Ahmed ZM,
|
||
Magini P,
|
||
Pienkowski VM,
|
||
Rasmussen KJ,
|
||
Hernan R,
|
||
Rasheed F,
|
||
Hussain M,
|
||
Shahzad M,
|
||
Lanpher BC,
|
||
Niu Z,
|
||
Lim FY,
|
||
Pippucci T,
|
||
Ploski R,
|
||
Kraus V,
|
||
Matuszewska K,
|
||
Palombo F,
|
||
Kianmahd J;
|
||
UCLA Clinical Genomics Center,
|
||
Martinez-Agosto JA,
|
||
Lee H,
|
||
Colao E,
|
||
Motazacker MM,
|
||
Brigatti KW,
|
||
Puffenberger EG,
|
||
Riazuddin SA,
|
||
Gonzaga-Jauregui C,
|
||
Chung WK,
|
||
Wagner M,
|
||
Schultz MJ,
|
||
Seri M,
|
||
Kievit AJA,
|
||
Perrotti N,
|
||
Wassink-Ruiter JSK,
|
||
van Bokhoven H,
|
||
Riazuddin S,
|
||
Riazuddin S</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2021 Jul 1;108(7):1330-1341.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1016/j.ajhg.2021.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34102099" target="_blank">34102099</a><a href="/pmc/articles/PMC8322935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32702652">Head circumferences of patients with Dravet syndrome show growth slowdown.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo Barco T,
|
||
Chemaly N,
|
||
Teng T,
|
||
Darra F,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Oct;111:107157.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1016/j.yebeh.2020.107157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32702652" target="_blank">32702652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25689425">The 15q11.2 BP1-BP2 microdeletion syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox DM,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Feb 13;16(2):4068-82.
|
||
doi: 10.3390/ijms16024068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25689425" target="_blank">25689425</a><a href="/pmc/articles/PMC4346944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2060%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 (147)</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/38252068">A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan J,
|
||
Benítez A,
|
||
Roth J,
|
||
Andrews JS,
|
||
Shah D,
|
||
Butcher E,
|
||
Jones A,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 May;65(5):1240-1263.
|
||
Epub 2024 Jan 22
|
||
doi: 10.1111/epi.17866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38252068" target="_blank">38252068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38031640">Long-term intellectual and developmental outcomes after pediatric epilepsy surgery: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefanos-Yakoub I,
|
||
Wingeier K,
|
||
Held U,
|
||
Latal B,
|
||
Wirrell E,
|
||
Smith ML,
|
||
Ramantani G</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Feb;65(2):251-265.
|
||
Epub 2023 Dec 9
|
||
doi: 10.1111/epi.17834.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38031640" target="_blank">38031640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36859290">The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Zuberi SM,
|
||
Striano P,
|
||
Rosenow F,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Mar 1;18(1):42.
|
||
doi: 10.1186/s13023-023-02626-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36859290" target="_blank">36859290</a><a href="/pmc/articles/PMC9979426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28729328">Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veroniki AA,
|
||
Rios P,
|
||
Cogo E,
|
||
Straus SE,
|
||
Finkelstein Y,
|
||
Kealey R,
|
||
Reynen E,
|
||
Soobiah C,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Hemmelgarn BR,
|
||
Yazdi F,
|
||
D'Souza J,
|
||
MacDonald H,
|
||
Tricco AC</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2017 Jul 20;7(7):e017248.
|
||
doi: 10.1136/bmjopen-2017-017248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28729328" target="_blank">28729328</a><a href="/pmc/articles/PMC5642793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18843624">Treatment of infantile spasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
||
Osborne JP,
|
||
Edwards SW</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2008 Oct 8;(4):CD001770.
|
||
doi: 10.1002/14651858.CD001770.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18843624" target="_blank">18843624</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Developmental%20and%20epileptic%20encephalopathy%2C%2060%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4693663%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693663%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693663%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693663%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=617929" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Developmental%20and%20epileptic%20encephalopathy,%2060" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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%2060)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610774" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10695[geneid]" target="_blank">View CNPY3 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617929" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_60" 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,%2060" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16270/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Developmental%20and%20epileptic%20encephalopathy,%2060" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Developmental%20and%20epileptic%20encephalopathy,%2060%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1638894" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1638894" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4693663[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4693663[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1638894" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1638894" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1638894" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1638894" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca4d484f3725e597dd085">Developmental and epileptic encephalopathy, 60</a>
|
||
<div class="ralinkpop offscreen_noflow">Developmental and epileptic encephalopathy, 60<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cca4d2b15b832ebc41dd42">C4693663[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cca4d084f3725e597dba75">C4693367[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(1)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
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