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<meta name="keywords" content="C2751603, eig10, epilepsy, idiopathic generalized 10, epilepsy, idiopathic generalized, 10, epilepsy, idiopathic generalized, susceptibility to, 10, epilepsy, idiopathic generalized, susceptibility to, type 10, epilepsy, juvenile myoclonic, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 7, finding, gabrd, gabrd-related juvenile myoclonic epilepsy, gefs+, type 5, susceptibility to, gefs+5, susceptibility to, gefsp5, susceptibility to, generalised epilepsy with febrile seizures plus, type 5, susceptibility to, generalized epilepsy with febrile seizures plus, type 5, susceptibility to, susceptibility to idiopathic generalised epilepsy 10, susceptibility to idiopathic generalized epilepsy 10, 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="Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with EIG, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Epilepsy, idiopathic generalized, susceptibility to, 10 (Concept Id: C2751603)
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<!--
UID=414062
ConceptID=C2751603
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy, idiopathic generalized, susceptibility to, 10<span class="h1sub">(EIG10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414062</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)&#10;Click for more information."><span class="highlight" style="background-color:">C2751603</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Epilepsy, idiopathic generalized 10; GABRD-Related Juvenile Myoclonic Epilepsy</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="GABRD - ID: 2563 - NCBI Gene" href="/gene/2563" class="medgenPMinfo">GABRD</a> (1p36.33)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013103" target="_blank">MONDO:0013103</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/613060" target="_blank">613060</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<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">Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with EIG, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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 />Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy">https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy</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_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</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)&#10;Click for more information.">C0009952</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0494475</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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)&#10;Click for more information.">C0751495</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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)&#10;Click for more information.">C4021759</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (&lt;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/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</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)&#10;Click for more information.">C4316903</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) 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=C0270850[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=75725">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75725" target="_blank" href="/omim/600669">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&amp;from_uid=75725" ref="ncbi_uid=75725">V</a></span></span><span class="TLline"><a href="/medgen/75725" ref="tree=GTR&amp;ncbi_uid=75725&amp;link_uid=75725" title="View MedGen record for 'Idiopathic generalized epilepsy'">Idiopathic generalized epilepsy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0014553[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=4989">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=4989" ref="ncbi_uid=4989">V</a></span></span><span class="TLline"><a href="/medgen/4989" ref="tree=GTR&amp;ncbi_uid=4989&amp;link_uid=4989" title="View MedGen record for 'Absence seizure'">Absence seizure</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843244[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=334707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334707" target="_blank" href="/omim/607681">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&amp;from_uid=334707" ref="ncbi_uid=334707">V</a></span></span><span class="TLline"><a href="/medgen/334707" ref="tree=GTR&amp;ncbi_uid=334707&amp;link_uid=334707" title="View MedGen record for 'Epilepsy, childhood absence 2'">Epilepsy, childhood absence 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=C1970160[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=369671">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369671" target="_blank" href="/omim/137160">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&amp;from_uid=369671" ref="ncbi_uid=369671">V</a></span></span><span class="TLline"><a href="/medgen/369671" ref="tree=GTR&amp;ncbi_uid=369671&amp;link_uid=369671" title="View MedGen record for 'Epilepsy, childhood absence 4'">Epilepsy, childhood absence 4</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=C1838604[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=325057">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325057" target="_blank" href="/omim/600131">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&amp;from_uid=325057" ref="ncbi_uid=325057">V</a></span></span><span class="TLline"><a href="/medgen/325057" ref="tree=GTR&amp;ncbi_uid=325057&amp;link_uid=325057" title="View MedGen record for 'Epilepsy, childhood absence, susceptibility to, 1'">Epilepsy, childhood absence, susceptibility to, 1</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=C2677087[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=393654">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393654" target="_blank" href="/omim/137192">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&amp;from_uid=393654" ref="ncbi_uid=393654">V</a></span></span><span class="TLline"><a href="/medgen/393654" ref="tree=GTR&amp;ncbi_uid=393654&amp;link_uid=393654" title="View MedGen record for 'Epilepsy, childhood absence, susceptibility to, 5'">Epilepsy, childhood absence, susceptibility to, 5</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=C2749872[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=440896">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=440896" target="_blank" href="/omim/607904">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&amp;from_uid=440896" ref="ncbi_uid=440896">V</a></span></span><span class="TLline"><a href="/medgen/440896" ref="tree=GTR&amp;ncbi_uid=440896&amp;link_uid=440896" title="View MedGen record for 'Epilepsy, childhood absence, susceptibility to, 6'">Epilepsy, childhood absence, susceptibility to, 6</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270853[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=78738">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78738" target="_blank" href="/omim/254770">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&amp;from_uid=78738" ref="ncbi_uid=78738">V</a></span></span><span class="TLline"><a href="/medgen/78738" ref="tree=GTR&amp;ncbi_uid=78738&amp;link_uid=78738" title="View MedGen record for 'Juvenile myoclonic epilepsy'">Juvenile myoclonic epilepsy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751729[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=442800">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442800" target="_blank" href="/omim/604827">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&amp;from_uid=442800" ref="ncbi_uid=442800">V</a></span></span><span class="TLline"><a href="/medgen/442800" ref="tree=GTR&amp;ncbi_uid=442800&amp;link_uid=442800" title="View MedGen record for 'Epilepsy, idiopathic generalized, susceptibility to, 7'">Epilepsy, idiopathic generalized, susceptibility to, 7</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=C2750887[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=413424">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413424" target="_blank" href="/omim/601949">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&amp;from_uid=413424" ref="ncbi_uid=413424">V</a></span></span><span class="TLline"><a href="/medgen/413424" ref="tree=GTR&amp;ncbi_uid=413424&amp;link_uid=413424" title="View MedGen record for 'Epilepsy, idiopathic generalized, susceptibility to, 9'">Epilepsy, idiopathic generalized, susceptibility to, 9</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751603[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=414062">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414062" target="_blank" href="/omim/613060">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&amp;from_uid=414062" ref="ncbi_uid=414062">V</a></span></span><span class="TLline">Epilepsy, idiopathic generalized, susceptibility to, 10</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750893[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=416407">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416407" target="_blank" href="/omim/600570">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&amp;from_uid=416407" ref="ncbi_uid=416407">V</a></span></span><span class="TLline"><a href="/medgen/416407" ref="tree=GTR&amp;ncbi_uid=416407&amp;link_uid=416407" title="View MedGen record for 'Epilepsy, idiopathic generalized, susceptibility to, 11'">Epilepsy, idiopathic generalized, susceptibility to, 11</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=C4013473[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=861910">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=861910" target="_blank" href="/omim/137160">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&amp;from_uid=861910" ref="ncbi_uid=861910">V</a></span></span><span class="TLline"><a href="/medgen/861910" ref="tree=GTR&amp;ncbi_uid=861910&amp;link_uid=861910" title="View MedGen record for 'Epilepsy, idiopathic generalized, susceptibility to, 13'">Epilepsy, idiopathic generalized, susceptibility to, 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442587" target="_blank" href="/omim/601949">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&amp;from_uid=442587" ref="ncbi_uid=442587">V</a></span></span><span class="TLline"><a href="/medgen/442587" ref="tree=GTR&amp;ncbi_uid=442587&amp;link_uid=442587" title="View MedGen record for 'Epilepsy, juvenile myoclonic, susceptibility to, 6'">Epilepsy, juvenile myoclonic, susceptibility to, 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416408" target="_blank" href="/omim/600570">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&amp;from_uid=416408" ref="ncbi_uid=416408">V</a></span></span><span class="TLline"><a href="/medgen/416408" ref="tree=GTR&amp;ncbi_uid=416408&amp;link_uid=416408" title="View MedGen record for 'EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8'">EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8</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=C1850778[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=342587">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342587" target="_blank" href="/omim/254770">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&amp;from_uid=342587" ref="ncbi_uid=342587">V</a></span></span><span class="TLline"><a href="/medgen/342587" ref="tree=GTR&amp;ncbi_uid=342587&amp;link_uid=342587" title="View MedGen record for 'Myoclonic epilepsy, juvenile, susceptibility to, 1'">Myoclonic epilepsy, juvenile, susceptibility to, 1</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=C1837308[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=324732">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324732" target="_blank" href="/omim/608816">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324732" ref="tree=GTR&amp;ncbi_uid=324732&amp;link_uid=324732" title="View MedGen record for 'Myoclonic epilepsy, juvenile, susceptibility to, 3'">Myoclonic epilepsy, juvenile, susceptibility to, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370067" target="_blank" href="/omim/611364">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/370067" ref="tree=GTR&amp;ncbi_uid=370067&amp;link_uid=370067" title="View MedGen record for 'Myoclonic epilepsy, juvenile, susceptibility to, 4'">Myoclonic epilepsy, juvenile, susceptibility to, 4</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/14214" ref="tree=MeSH" title="MedGen record for Brain disorder">Brain disorder</a></span><ul><li><span class="TLline"><a href="/medgen/4506" ref="tree=MeSH" title="MedGen record for Epilepsy">Epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/78738" ref="tree=MeSH" title="MedGen record for Juvenile myoclonic epilepsy">Juvenile myoclonic epilepsy</a></span><ul><li><span class="matched_ds">Epilepsy, idiopathic generalized, susceptibility to, 10</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/25107880">Genetics of epilepsy: The testimony of twins in the molecular era.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vadlamudi L,
Milne RL,
Lawrence K,
Heron SE,
Eckhaus J,
Keay D,
Connellan M,
Torn-Broers Y,
Howell RA,
Mulley JC,
Scheffer IE,
Dibbens LM,
Hopper JL,
Berkovic SF</span><br />
<span class="medgenPMjournal">Neurology</span>
2014 Sep 16;83(12):1042-8.
Epub 2014 Aug 8
doi: 10.1212/WNL.0000000000000790.
<span class="bold">PMID: </span><a href="/pubmed/25107880" target="_blank">25107880</a><a href="/pmc/articles/PMC4166361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16302888">Properties of antiepileptic drugs in the treatment of idiopathic generalized epilepsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patsalos PN</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2005;46 Suppl 9:140-8.
doi: 10.1111/j.1528-1167.2005.00326.x.
<span class="bold">PMID: </span><a href="/pubmed/16302888" target="_blank">16302888</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010)%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 (2)</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/38165337">Molecular and Phenotypic Characterization of the RORB-Related Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gokce-Samar Z,
Vetro A,
De Bellescize J,
Pisano T,
Monteiro L,
Penaud N,
Korff CM,
Fluss J,
Marini C,
Cesaroni E,
Alvarez BM,
Sanlaville D,
Chatron N,
Arzimanoglou AA,
Labalme A,
Cuddapah VA,
Ruggiero SM,
Lecoquierre F,
Nicolas G,
Marie GA,
Lebas A,
Testard HO,
Helbig KL,
Ruiz A,
Ngoh A,
Kurian MA,
Reid K,
Spaull R,
Joset P,
Ramantani G,
Steindl K,
Krenn M,
Gerstl L,
Vieker S,
Craiu D,
Pendziwiat M,
Haldeman-Englert C,
Kanivets I,
Romanova I,
Rajan DS,
Rosenfeld JA,
Au M,
Grand K,
Graham M Jr,
Isapof A,
Villeneuve N,
Smol T,
Caumes R,
Zacher P,
Neuser S,
Tinschert S,
Platzer K,
Bartolomaeus T,
Mohnke I,
Radtke M,
Jamra RA,
Helbig I,
Jansen FE,
Koop K,
Rudolf G,
Küry S,
Courchet J,
Guerrini R,
Lesca G</span><br />
<span class="medgenPMjournal">Neurology</span>
2024 Jan 23;102(2):e207945.
Epub 2023 Dec 22
doi: 10.1212/WNL.0000000000207945.
<span class="bold">PMID: </span><a href="/pubmed/38165337" target="_blank">38165337</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32580138">Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shi XY,
Wang G,
Li T,
Li Z,
Leo P,
Liu Z,
Wu G,
Zhu H,
Zhang Y,
Li D,
Gao L,
Yang L,
Wang W,
Liao J,
Wang J,
Zhou S,
Wang H,
Li X,
Gao J,
Zhang L,
Shu X,
Li D,
Li Y,
Chen C,
Zhang X,
Partida GC,
Lundberg M,
Reutens D,
Bartlett P,
Brown MA,
Zou LP,
Xu H</span><br />
<span class="medgenPMjournal">EBioMedicine</span>
2020 Jul;57:102840.
Epub 2020 Jun 21
doi: 10.1016/j.ebiom.2020.102840.
<span class="bold">PMID: </span><a href="/pubmed/32580138" target="_blank">32580138</a><a href="/pmc/articles/PMC7317238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25243798">Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fanciulli M,
Pasini E,
Malacrida S,
Striano P,
Striano S,
Michelucci R,
Ottman R,
Nobile C</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2014 Oct;55(10):1651-8.
Epub 2014 Sep 19
doi: 10.1111/epi.12767.
<span class="bold">PMID: </span><a href="/pubmed/25243798" target="_blank">25243798</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19136953">15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Helbig I,
Mefford HC,
Sharp AJ,
Guipponi M,
Fichera M,
Franke A,
Muhle H,
de Kovel C,
Baker C,
von Spiczak S,
Kron KL,
Steinich I,
Kleefuss-Lie AA,
Leu C,
Gaus V,
Schmitz B,
Klein KM,
Reif PS,
Rosenow F,
Weber Y,
Lerche H,
Zimprich F,
Urak L,
Fuchs K,
Feucht M,
Genton P,
Thomas P,
Visscher F,
de Haan GJ,
Møller RS,
Hjalgrim H,
Luciano D,
Wittig M,
Nothnagel M,
Elger CE,
Nürnberg P,
Romano C,
Malafosse A,
Koeleman BP,
Lindhout D,
Stephani U,
Schreiber S,
Eichler EE,
Sander T</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2009 Feb;41(2):160-2.
Epub 2009 Jan 11
doi: 10.1038/ng.292.
<span class="bold">PMID: </span><a href="/pubmed/19136953" target="_blank">19136953</a><a href="/pmc/articles/PMC3026630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8462488">Convulsive status epilepticus in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gross-Tsur V,
Shinnar S</span><br />
<span class="medgenPMjournal">Epilepsia</span>
1993;34 Suppl 1:S12-20.
doi: 10.1111/j.1528-1157.1993.tb05901.x.
<span class="bold">PMID: </span><a href="/pubmed/8462488" target="_blank">8462488</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39054313">Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heyne HO,
Pajuste FD,
Wanner J,
Daniel Onwuchekwa JI,
Mägi R,
Palotie A;
FinnGen;
Estonian Biobank research team,
Kälviainen R,
Daly MJ</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 Jul 25;15(1):6277.
doi: 10.1038/s41467-024-50295-z.
<span class="bold">PMID: </span><a href="/pubmed/39054313" target="_blank">39054313</a><a href="/pmc/articles/PMC11272783" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27416858">Epilepsy and tobacco smoking: a cross-sectional study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torriani O,
Vuilleumier F,
Perneger T,
Despland PA,
Maeder M,
Héritier-Barras AC,
Vulliemoz S,
Seeck M,
Rossetti AO,
Picard F</span><br />
<span class="medgenPMjournal">J Neurol</span>
2016 Oct;263(10):2057-64.
Epub 2016 Jul 14
doi: 10.1007/s00415-016-8228-7.
<span class="bold">PMID: </span><a href="/pubmed/27416858" target="_blank">27416858</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22056632">Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hochstenbach R,
Buizer-Voskamp JE,
Vorstman JA,
Ophoff RA</span><br />
<span class="medgenPMjournal">Cytogenet Genome Res</span>
2011;135(3-4):174-202.
Epub 2011 Nov 2
doi: 10.1159/000332928.
<span class="bold">PMID: </span><a href="/pubmed/22056632" target="_blank">22056632</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12531947">Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marini C,
King MA,
Archer JS,
Newton MR,
Berkovic SF</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2003 Feb;74(2):192-6.
doi: 10.1136/jnnp.74.2.192.
<span class="bold">PMID: </span><a href="/pubmed/12531947" target="_blank">12531947</a><a href="/pmc/articles/PMC1738270" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8462488">Convulsive status epilepticus in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gross-Tsur V,
Shinnar S</span><br />
<span class="medgenPMjournal">Epilepsia</span>
1993;34 Suppl 1:S12-20.
doi: 10.1111/j.1528-1157.1993.tb05901.x.
<span class="bold">PMID: </span><a href="/pubmed/8462488" target="_blank">8462488</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010%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 (16)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32580138">Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shi XY,
Wang G,
Li T,
Li Z,
Leo P,
Liu Z,
Wu G,
Zhu H,
Zhang Y,
Li D,
Gao L,
Yang L,
Wang W,
Liao J,
Wang J,
Zhou S,
Wang H,
Li X,
Gao J,
Zhang L,
Shu X,
Li D,
Li Y,
Chen C,
Zhang X,
Partida GC,
Lundberg M,
Reutens D,
Bartlett P,
Brown MA,
Zou LP,
Xu H</span><br />
<span class="medgenPMjournal">EBioMedicine</span>
2020 Jul;57:102840.
Epub 2020 Jun 21
doi: 10.1016/j.ebiom.2020.102840.
<span class="bold">PMID: </span><a href="/pubmed/32580138" target="_blank">32580138</a><a href="/pmc/articles/PMC7317238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27093945">Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Meletti S,
Ruggieri A,
Avanzini P,
Caramaschi E,
Filippini M,
Bergonzini P,
Monti G,
Vignoli A,
Olivotto S,
Mastrangelo M,
Santucci M,
Gobbi G,
Veggiotti P,
Vaudano AE</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2016 Jun;57(6):896-906.
Epub 2016 Apr 19
doi: 10.1111/epi.13385.
<span class="bold">PMID: </span><a href="/pubmed/27093945" target="_blank">27093945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16302888">Properties of antiepileptic drugs in the treatment of idiopathic generalized epilepsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patsalos PN</span><br />
<span class="medgenPMjournal">Epilepsia</span>
2005;46 Suppl 9:140-8.
doi: 10.1111/j.1528-1167.2005.00326.x.
<span class="bold">PMID: </span><a href="/pubmed/16302888" target="_blank">16302888</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12531947">Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marini C,
King MA,
Archer JS,
Newton MR,
Berkovic SF</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2003 Feb;74(2):192-6.
doi: 10.1136/jnnp.74.2.192.
<span class="bold">PMID: </span><a href="/pubmed/12531947" target="_blank">12531947</a><a href="/pmc/articles/PMC1738270" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/24468822">Familial risk of epilepsy: a population-based study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peljto AL,
Barker-Cummings C,
Vasoli VM,
Leibson CL,
Hauser WA,
Buchhalter JR,
Ottman R</span><br />
<span class="medgenPMjournal">Brain</span>
2014 Mar;137(Pt 3):795-805.
Epub 2014 Jan 26
doi: 10.1093/brain/awt368.
<span class="bold">PMID: </span><a href="/pubmed/24468822" target="_blank">24468822</a><a href="/pmc/articles/PMC3927702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19620610">Why do seizures in generalized epilepsy often occur in the morning?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Badawy RA,
Macdonell RA,
Jackson GD,
Berkovic SF</span><br />
<span class="medgenPMjournal">Neurology</span>
2009 Jul 21;73(3):218-22.
doi: 10.1212/WNL.0b013e3181ae7ca6.
<span class="bold">PMID: </span><a href="/pubmed/19620610" target="_blank">19620610</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12531947">Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marini C,
King MA,
Archer JS,
Newton MR,
Berkovic SF</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2003 Feb;74(2):192-6.
doi: 10.1136/jnnp.74.2.192.
<span class="bold">PMID: </span><a href="/pubmed/12531947" target="_blank">12531947</a><a href="/pmc/articles/PMC1738270" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11231218">Atypical benign partial epilepsy/pseudo-Lennox syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn A</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2000;2 Suppl 1:S11-7.
<span class="bold">PMID: </span><a href="/pubmed/11231218" target="_blank">11231218</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8603640">Clinical indicators of genetic susceptibility to epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ottman R,
Lee JH,
Risch N,
Hauser WA,
Susser M</span><br />
<span class="medgenPMjournal">Epilepsia</span>
1996 Apr;37(4):353-61.
doi: 10.1111/j.1528-1157.1996.tb00571.x.
<span class="bold">PMID: </span><a href="/pubmed/8603640" target="_blank">8603640</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39054313">Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heyne HO,
Pajuste FD,
Wanner J,
Daniel Onwuchekwa JI,
Mägi R,
Palotie A;
FinnGen;
Estonian Biobank research team,
Kälviainen R,
Daly MJ</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 Jul 25;15(1):6277.
doi: 10.1038/s41467-024-50295-z.
<span class="bold">PMID: </span><a href="/pubmed/39054313" target="_blank">39054313</a><a href="/pmc/articles/PMC11272783" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38165337">Molecular and Phenotypic Characterization of the RORB-Related Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gokce-Samar Z,
Vetro A,
De Bellescize J,
Pisano T,
Monteiro L,
Penaud N,
Korff CM,
Fluss J,
Marini C,
Cesaroni E,
Alvarez BM,
Sanlaville D,
Chatron N,
Arzimanoglou AA,
Labalme A,
Cuddapah VA,
Ruggiero SM,
Lecoquierre F,
Nicolas G,
Marie GA,
Lebas A,
Testard HO,
Helbig KL,
Ruiz A,
Ngoh A,
Kurian MA,
Reid K,
Spaull R,
Joset P,
Ramantani G,
Steindl K,
Krenn M,
Gerstl L,
Vieker S,
Craiu D,
Pendziwiat M,
Haldeman-Englert C,
Kanivets I,
Romanova I,
Rajan DS,
Rosenfeld JA,
Au M,
Grand K,
Graham M Jr,
Isapof A,
Villeneuve N,
Smol T,
Caumes R,
Zacher P,
Neuser S,
Tinschert S,
Platzer K,
Bartolomaeus T,
Mohnke I,
Radtke M,
Jamra RA,
Helbig I,
Jansen FE,
Koop K,
Rudolf G,
Küry S,
Courchet J,
Guerrini R,
Lesca G</span><br />
<span class="medgenPMjournal">Neurology</span>
2024 Jan 23;102(2):e207945.
Epub 2023 Dec 22
doi: 10.1212/WNL.0000000000207945.
<span class="bold">PMID: </span><a href="/pubmed/38165337" target="_blank">38165337</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32580138">Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shi XY,
Wang G,
Li T,
Li Z,
Leo P,
Liu Z,
Wu G,
Zhu H,
Zhang Y,
Li D,
Gao L,
Yang L,
Wang W,
Liao J,
Wang J,
Zhou S,
Wang H,
Li X,
Gao J,
Zhang L,
Shu X,
Li D,
Li Y,
Chen C,
Zhang X,
Partida GC,
Lundberg M,
Reutens D,
Bartlett P,
Brown MA,
Zou LP,
Xu H</span><br />
<span class="medgenPMjournal">EBioMedicine</span>
2020 Jul;57:102840.
Epub 2020 Jun 21
doi: 10.1016/j.ebiom.2020.102840.
<span class="bold">PMID: </span><a href="/pubmed/32580138" target="_blank">32580138</a><a href="/pmc/articles/PMC7317238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19843651">Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Kovel CG,
Trucks H,
Helbig I,
Mefford HC,
Baker C,
Leu C,
Kluck C,
Muhle H,
von Spiczak S,
Ostertag P,
Obermeier T,
Kleefuss-Lie AA,
Hallmann K,
Steffens M,
Gaus V,
Klein KM,
Hamer HM,
Rosenow F,
Brilstra EH,
Trenité DK,
Swinkels ME,
Weber YG,
Unterberger I,
Zimprich F,
Urak L,
Feucht M,
Fuchs K,
Møller RS,
Hjalgrim H,
De Jonghe P,
Suls A,
Rückert IM,
Wichmann HE,
Franke A,
Schreiber S,
Nürnberg P,
Elger CE,
Lerche H,
Stephani U,
Koeleman BP,
Lindhout D,
Eichler EE,
Sander T</span><br />
<span class="medgenPMjournal">Brain</span>
2010 Jan;133(Pt 1):23-32.
Epub 2009 Oct 20
doi: 10.1093/brain/awp262.
<span class="bold">PMID: </span><a href="/pubmed/19843651" target="_blank">19843651</a><a href="/pmc/articles/PMC2801323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7654068">The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1".</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sander T,
Hildmann T,
Janz D,
Wienker TF,
Neitzel H,
Bianchi A,
Bauer G,
Sailer U,
Berek K,
Schmitz B</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
1995 Aug;38(2):210-7.
doi: 10.1002/ana.410380213.
<span class="bold">PMID: </span><a href="/pubmed/7654068" target="_blank">7654068</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010%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 (19)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751603%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
<li><a href="/gtr/tests?term=C2751603%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C2751603%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
<li><a href="/gtr/tests?term=C2751603%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751603%5bDISCUI%5d" target="_blank">See all (28)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=613060" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epilepsy,%20idiopathic%20generalized,%20susceptibility%20to,%2010" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epilepsy%2C%20idiopathic%20generalized%2C%20susceptibility%20to%2C%2010)%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>
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