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<meta name="keywords" content="C4551983, depdc5, depdc5 epilepsy, familial focal, with variable foci, depdc5-related epilepsy, disease or syndrome, epilepsy, familial focal, with variable foci, epilepsy, familial focal, with variable foci 1, epilepsy, familial focal, with variable foci caused by mutation in depdc5, epilepsy, partial, with variable foci, familial focal epilepsy with variable foci 1, ffevf1, 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="DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1641798
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ConceptID=C4551983
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy, familial focal, with variable foci 1<span class="h1sub">(FFEVF1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641798</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:">C4551983</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DEPDC5-Related Epilepsy; FFEVF1</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="DEPDC5 - ID: 9681 - NCBI Gene" href="/gene/9681" class="medgenPMinfo">DEPDC5</a> (22q12.2-12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024556" target="_blank">MONDO:0024556</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604364" target="_blank">604364</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_101">
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||
<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/NBK385626" target="_blank">DEPDC5-Related Epilepsy</a></div><div>DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals. [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/NBK385626#depdc5-epilepsy.Summary" target="NBK385626">Summary</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.GeneReview_Scope" target="NBK385626">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Diagnosis" target="NBK385626">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Clinical_Characteristics" target="NBK385626">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Genetically_Related_Alle" target="NBK385626">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Differential_Diagnosis" target="NBK385626">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Management" target="NBK385626">Management</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Genetic_Counseling" target="NBK385626">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Resources" target="NBK385626">Resources</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Molecular_Genetics" target="NBK385626">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.Chapter_Notes" target="NBK385626">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK385626#depdc5-epilepsy.References" target="NBK385626">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Stéphanie Baulac | Sara Baldassari <a href="/books/NBK385626" target="NBK385626" title="NCBI Bookshelf: DEPDC5-Related Epilepsy">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 MedlinePlus Genetics</strong><br />Among family members with FFEVF, individuals may not have the same brain region affected (variable foci), meaning that one person's seizures may not begin in the same part of the brain as their affected relative.<br /><br />Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well-controlled with medication.<br /><br />Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. In more than 70 percent of affected individuals, these seizures begin in one of two areas of the brain, either the temporal lobe or the frontal lobe. The region of the brain where the seizures start tends to stay the same over time. In rare instances, seizure activity that starts in one area spreads to affect the entire brain and causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.<br /><br />Most people with FFEVF are intellectually normal, and there are no problems with their brain function between seizures. However, some people with FFEVF have developed psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci">https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci</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_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_581539"><div><strong>Nocturnal seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>581539</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.">C0393719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seizures that occur while the affected individual is sleeping.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/581539">Feature record</a> | <a href="/medgen?term=%22Nocturnal%20seizures%22%5BClinical%20Features%5D%20OR%20581539%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140910"><div><strong>Hemimegalencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140910</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.">C0431391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of all or parts of one cerebral hemisphere.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140910">Feature record</a> | <a href="/medgen?term=%22Hemimegalencephaly%22%5BClinical%20Features%5D%20OR%20140910%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339510"><div><strong>Isolated focal cortical dysplasia type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339510</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.">C1846385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339510">Feature record</a> | <a href="/medgen?term=%22Isolated%20focal%20cortical%20dysplasia%20type%20II%22%5BClinical%20Features%5D%20OR%20339510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853938"><div><strong>Focal cortical dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853938</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.">C2938983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853938">Feature record</a> | <a href="/medgen?term=%22Focal%20cortical%20dysplasia%22%5BClinical%20Features%5D%20OR%20853938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1384182"><div><strong>Focal cortical dysplasia, type IIA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1384182</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.">C4478700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1384182">Feature record</a> | <a href="/medgen?term=%22Focal%20cortical%20dysplasia%2C%20type%20IIA%22%5BClinical%20Features%5D%20OR%201384182%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1670970"><div><strong>Focal cortical dysplasia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1670970</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.">C4732821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of focal cortical dysplasia that is characterized by abnormal cortical layering.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1670970">Feature record</a> | <a href="/medgen?term=%22Focal%20cortical%20dysplasia%20type%20I%22%5BClinical%20Features%5D%20OR%201670970%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_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal cortical dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1670970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal cortical dysplasia type I</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1384182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal cortical dysplasia, type IIA</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemimegalencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated focal cortical dysplasia type II</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_581539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nocturnal seizures</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></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858477[DISCUI]&test_type=Clinical" ref="ncbi_uid=348951">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348951" target="_blank" href="/omim/604364">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=348951" ref="ncbi_uid=348951">V</a></span></span><span class="TLline"><a href="/medgen/348951" ref="tree=GTR&ncbi_uid=348951&link_uid=348951" title="View MedGen record for 'Familial focal epilepsy with variable foci'">Familial focal epilepsy with variable foci</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551983[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641798">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641798" target="_blank" href="/omim/604364">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK385626/" ref="ncbi_uid=1641798">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641798" ref="ncbi_uid=1641798">V</a></span></span><span class="TLline">Epilepsy, familial focal, with variable foci 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310709[DISCUI]&test_type=Clinical" ref="ncbi_uid=934676">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934676" target="_blank" href="/omim/607072">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934676" ref="ncbi_uid=934676">V</a></span></span><span class="TLline"><a href="/medgen/934676" ref="tree=GTR&ncbi_uid=934676&link_uid=934676" title="View MedGen record for 'Epilepsy, familial focal, with variable foci 2'">Epilepsy, familial focal, with variable foci 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310708[DISCUI]&test_type=Clinical" ref="ncbi_uid=934675">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934675" target="_blank" href="/omim/600928">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934675" ref="ncbi_uid=934675">V</a></span></span><span class="TLline"><a href="/medgen/934675" ref="tree=GTR&ncbi_uid=934675&link_uid=934675" title="View MedGen record for 'Epilepsy, familial focal, with variable foci 3'">Epilepsy, familial focal, with variable foci 3</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826100" ref="tree=MeSH" title="MedGen record for Familial partial epilepsy">Familial partial epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/348951" ref="tree=MeSH" title="MedGen record for Familial focal epilepsy with variable foci">Familial focal epilepsy with variable foci</a></span><ul><li><span class="matched_ds">Epilepsy, familial focal, with variable foci 1</span></li></ul></li></ul></li></ul></div></div></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/27173016">Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weckhuysen S,
|
||
Marsan E,
|
||
Lambrecq V,
|
||
Marchal C,
|
||
Morin-Brureau M,
|
||
An-Gourfinkel I,
|
||
Baulac M,
|
||
Fohlen M,
|
||
Kallay Zetchi C,
|
||
Seeck M,
|
||
de la Grange P,
|
||
Dermaut B,
|
||
Meurs A,
|
||
Thomas P,
|
||
Chassoux F,
|
||
Leguern E,
|
||
Picard F,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2016 Jun;57(6):994-1003.
|
||
Epub 2016 May 13
|
||
doi: 10.1111/epi.13391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27173016" target="_blank">27173016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23702456">Spatiotemporal profiles of focal and generalised spikes in childhood absence epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kokkinos V,
|
||
Koupparis AM,
|
||
Tsiptsios D,
|
||
Kostopoulos GK,
|
||
Koutroumanidis M</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2013 Mar;15(1):14-26.
|
||
doi: 10.1684/epd.2013.0561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23702456" target="_blank">23702456</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23542701">Mutations of DEPDC5 cause autosomal dominant focal epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ishida S,
|
||
Picard F,
|
||
Rudolf G,
|
||
Noé E,
|
||
Achaz G,
|
||
Thomas P,
|
||
Genton P,
|
||
Mundwiller E,
|
||
Wolff M,
|
||
Marescaux C,
|
||
Miles R,
|
||
Baulac M,
|
||
Hirsch E,
|
||
Leguern E,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2013 May;45(5):552-5.
|
||
Epub 2013 Mar 31
|
||
doi: 10.1038/ng.2601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23542701" target="_blank">23542701</a><a href="/pmc/articles/PMC5010101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831360">Temporal lobe epilepsy surgery failures: predictors of seizure recurrence, yield of reevaluation, and outcome following reoperation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jehi LE,
|
||
Silveira DC,
|
||
Bingaman W,
|
||
Najm I</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2010 Dec;113(6):1186-94.
|
||
Epub 2010 Sep 10
|
||
doi: 10.3171/2010.8.JNS10180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831360" target="_blank">20831360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%201%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35907814">What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gu C,
|
||
Lu X,
|
||
Ma J,
|
||
Pu L,
|
||
Zhi X,
|
||
Shu J,
|
||
Li D,
|
||
Cai C</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2022 Jul 30;22(1):459.
|
||
doi: 10.1186/s12887-022-03515-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35907814" target="_blank">35907814</a><a href="/pmc/articles/PMC9338555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34376795">A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Shen Y,
|
||
Yang Z,
|
||
Yang F,
|
||
Li Y,
|
||
Yu B,
|
||
Chen W,
|
||
Gan J</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2022 Feb;67(2):79-85.
|
||
Epub 2021 Aug 11
|
||
doi: 10.1038/s10038-021-00969-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34376795" target="_blank">34376795</a><a href="/pmc/articles/PMC8786660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31225799">Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
|
||
Huang Z,
|
||
Zhang X,
|
||
Duan Y,
|
||
Jia Y,
|
||
Ye J,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2019 Jun 1;21(3):289-294.
|
||
doi: 10.1684/epd.2019.1066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31225799" target="_blank">31225799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30767899">DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aberastury M,
|
||
Fernández R,
|
||
Córdoba M,
|
||
Comas B,
|
||
Peralta M,
|
||
Agosta G,
|
||
Kauffman M,
|
||
Silva W</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2019 Feb 1;21(1):42-47.
|
||
doi: 10.1684/epd.2019.1025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30767899" target="_blank">30767899</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24585383">Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Heron SE,
|
||
Regan BM,
|
||
Mandelstam S,
|
||
Crompton DE,
|
||
Hodgson BL,
|
||
Licchetta L,
|
||
Provini F,
|
||
Bisulli F,
|
||
Vadlamudi L,
|
||
Gecz J,
|
||
Connelly A,
|
||
Tinuper P,
|
||
Ricos MG,
|
||
Berkovic SF,
|
||
Dibbens LM</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2014 May;75(5):782-7.
|
||
Epub 2014 Apr 14
|
||
doi: 10.1002/ana.24126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24585383" target="_blank">24585383</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%201%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37902097">Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang D,
|
||
Wang J,
|
||
Qin Z,
|
||
Feng J,
|
||
Mao C,
|
||
Chen Y,
|
||
Huang X,
|
||
Ruan Y</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Feb;9(1):33-40.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1002/epi4.12856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37902097" target="_blank">37902097</a><a href="/pmc/articles/PMC10839296" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37491868">Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dainelli A,
|
||
Iacomino M,
|
||
Rossato S,
|
||
Bugin S,
|
||
Traverso M,
|
||
Severino M,
|
||
Gustincich S,
|
||
Capra V,
|
||
Di Duca M,
|
||
Zara F,
|
||
Scala M,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1314-1330.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1002/epi4.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37491868" target="_blank">37491868</a><a href="/pmc/articles/PMC10690669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37003255">Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartolini E,
|
||
Della Vecchia S,
|
||
Biagioni T,
|
||
Montanaro D,
|
||
Ferrari AR</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2023 Oct;54(5):347-350.
|
||
Epub 2023 Apr 1
|
||
doi: 10.1055/a-2067-5096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37003255" target="_blank">37003255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34376795">A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Shen Y,
|
||
Yang Z,
|
||
Yang F,
|
||
Li Y,
|
||
Yu B,
|
||
Chen W,
|
||
Gan J</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2022 Feb;67(2):79-85.
|
||
Epub 2021 Aug 11
|
||
doi: 10.1038/s10038-021-00969-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34376795" target="_blank">34376795</a><a href="/pmc/articles/PMC8786660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831360">Temporal lobe epilepsy surgery failures: predictors of seizure recurrence, yield of reevaluation, and outcome following reoperation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jehi LE,
|
||
Silveira DC,
|
||
Bingaman W,
|
||
Najm I</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2010 Dec;113(6):1186-94.
|
||
Epub 2010 Sep 10
|
||
doi: 10.3171/2010.8.JNS10180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831360" target="_blank">20831360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%201%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37902097">Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang D,
|
||
Wang J,
|
||
Qin Z,
|
||
Feng J,
|
||
Mao C,
|
||
Chen Y,
|
||
Huang X,
|
||
Ruan Y</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Feb;9(1):33-40.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1002/epi4.12856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37902097" target="_blank">37902097</a><a href="/pmc/articles/PMC10839296" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37491868">Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dainelli A,
|
||
Iacomino M,
|
||
Rossato S,
|
||
Bugin S,
|
||
Traverso M,
|
||
Severino M,
|
||
Gustincich S,
|
||
Capra V,
|
||
Di Duca M,
|
||
Zara F,
|
||
Scala M,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1314-1330.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1002/epi4.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37491868" target="_blank">37491868</a><a href="/pmc/articles/PMC10690669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831360">Temporal lobe epilepsy surgery failures: predictors of seizure recurrence, yield of reevaluation, and outcome following reoperation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jehi LE,
|
||
Silveira DC,
|
||
Bingaman W,
|
||
Najm I</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2010 Dec;113(6):1186-94.
|
||
Epub 2010 Sep 10
|
||
doi: 10.3171/2010.8.JNS10180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831360" target="_blank">20831360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%201%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 (3)</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=C4551983%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551983%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551983%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551983%5bDISCUI%5d" target="_blank">See all (23)</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=604364" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epilepsy,%20familial%20focal,%20with%20variable%20foci%201" target="_blank">ClinicalTrials.gov</a></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=614191" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9681[geneid]" target="_blank">View DEPDC5 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=604364" 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/epilepsy_familial_focal_with_variable_foci_1_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epilepsy,%20familial%20focal,%20with%20variable%20foci%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18202/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/27683934" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Epilepsy,%20familial%20focal,%20with%20variable%20foci%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Epilepsy,%20familial%20focal,%20with%20variable%20foci%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641798" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1641798" ref="log$=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=C4551983[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4551983[DISCUI]&test_type=Clinical" ref="log$=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=1641798" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1641798" ref="log$=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=1641798" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1641798" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1641798" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1641798" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1641798" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</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=67ca7177b15b832ebc2b7e7a">Epilepsy, familial focal, with variable foci 1</a>
|
||
<div class="ralinkpop offscreen_noflow">Epilepsy, familial focal, with variable foci 1<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=67ca7176a68b6b5afc923c0d">C4551983[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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