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<meta name="keywords" content="C1850778, efhc1, ejm1, finding, myoclonic epilepsy, juvenile, 1, myoclonic epilepsy, juvenile, susceptibility to, 1, 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="Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see 600669), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning (Janz and Durner, 1997). Genetic Heterogeneity of Juvenile Myoclonic Seizures Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q23; EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q27; and EJM10 (617924), by variation in the ICK gene (612325) on chromosome 6p12. In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36. EJM7 (see 613060) was thought to be caused by variation in the GABRD gene (137163.0002) on 1p36, but the variant was reclassified as a polymorphism." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=342587
|
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ConceptID=C1850778
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myoclonic epilepsy, juvenile, susceptibility to, 1<span class="h1sub">(EJM1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342587</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:">C1850778</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EJM1; Myoclonic Epilepsy, Juvenile, 1</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="EFHC1 - ID: 114327 - NCBI Gene" href="/gene/114327" class="medgenPMinfo">EFHC1</a> (6p12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020752" target="_blank">MONDO:0020752</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/254770" target="_blank">254770</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see 600669), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning (Janz and Durner, 1997). Genetic Heterogeneity of Juvenile Myoclonic Seizures Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q23; EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q27; and EJM10 (617924), by variation in the ICK gene (612325) on chromosome 6p12. In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36. EJM7 (see 613060) was thought to be caused by variation in the GABRD gene (137163.0002) on 1p36, but the variant was reclassified as a polymorphism. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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) 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_335620"><div><strong>Morning myoclonic jerks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335620</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.">C1847164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335620">Feature record</a> | <a href="/medgen?term=%22Morning%20myoclonic%20jerks%22%5BClinical%20Features%5D%20OR%20335620%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_868685"><div><strong>EEG with generalized polyspikes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868685</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.">C4023088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868685">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20generalized%20polyspikes%22%5BClinical%20Features%5D%20OR%20868685%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) 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="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with generalized polyspikes</a></span></li><li class="TLline">
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<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><li class="TLline">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Morning myoclonic jerks</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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]&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&from_uid=75725" ref="ncbi_uid=75725">V</a></span></span><span class="TLline"><a href="/medgen/75725" ref="tree=GTR&ncbi_uid=75725&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]&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&from_uid=4989" ref="ncbi_uid=4989">V</a></span></span><span class="TLline"><a href="/medgen/4989" ref="tree=GTR&ncbi_uid=4989&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]&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&from_uid=334707" ref="ncbi_uid=334707">V</a></span></span><span class="TLline"><a href="/medgen/334707" ref="tree=GTR&ncbi_uid=334707&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]&test_type=Clinical&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&from_uid=369671" ref="ncbi_uid=369671">V</a></span></span><span class="TLline"><a href="/medgen/369671" ref="tree=GTR&ncbi_uid=369671&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]&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&from_uid=325057" ref="ncbi_uid=325057">V</a></span></span><span class="TLline"><a href="/medgen/325057" ref="tree=GTR&ncbi_uid=325057&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]&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&from_uid=393654" ref="ncbi_uid=393654">V</a></span></span><span class="TLline"><a href="/medgen/393654" ref="tree=GTR&ncbi_uid=393654&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]&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&from_uid=440896" ref="ncbi_uid=440896">V</a></span></span><span class="TLline"><a href="/medgen/440896" ref="tree=GTR&ncbi_uid=440896&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]&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&from_uid=78738" ref="ncbi_uid=78738">V</a></span></span><span class="TLline"><a href="/medgen/78738" ref="tree=GTR&ncbi_uid=78738&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]&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&from_uid=442800" ref="ncbi_uid=442800">V</a></span></span><span class="TLline"><a href="/medgen/442800" ref="tree=GTR&ncbi_uid=442800&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]&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&from_uid=413424" ref="ncbi_uid=413424">V</a></span></span><span class="TLline"><a href="/medgen/413424" ref="tree=GTR&ncbi_uid=413424&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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751603[DISCUI]&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&from_uid=414062" ref="ncbi_uid=414062">V</a></span></span><span class="TLline"><a href="/medgen/414062" ref="tree=GTR&ncbi_uid=414062&link_uid=414062" title="View MedGen record for 'Epilepsy, idiopathic generalized, susceptibility to, 10'">Epilepsy, idiopathic generalized, susceptibility to, 10</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=C2750893[DISCUI]&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&from_uid=416407" ref="ncbi_uid=416407">V</a></span></span><span class="TLline"><a href="/medgen/416407" ref="tree=GTR&ncbi_uid=416407&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]&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&from_uid=861910" ref="ncbi_uid=861910">V</a></span></span><span class="TLline"><a href="/medgen/861910" ref="tree=GTR&ncbi_uid=861910&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&from_uid=442587" ref="ncbi_uid=442587">V</a></span></span><span class="TLline"><a href="/medgen/442587" ref="tree=GTR&ncbi_uid=442587&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&from_uid=416408" ref="ncbi_uid=416408">V</a></span></span><span class="TLline"><a href="/medgen/416408" ref="tree=GTR&ncbi_uid=416408&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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850778[DISCUI]&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&from_uid=342587" ref="ncbi_uid=342587">V</a></span></span><span class="TLline">Myoclonic epilepsy, juvenile, susceptibility to, 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=C1837308[DISCUI]&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&ncbi_uid=324732&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&ncbi_uid=370067&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">Myoclonic epilepsy, juvenile, susceptibility to, 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/29924869">Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee CG,
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Lee J,
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Lee M</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2018;13(6):e0199321.
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Epub 2018 Jun 20
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doi: 10.1371/journal.pone.0199321.
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<span class="bold">PMID: </span><a href="/pubmed/29924869" target="_blank">29924869</a><a href="/pmc/articles/PMC6010271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%201)%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 (1)</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/37225432">Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Si X,
|
||
Wang J,
|
||
Wang Z,
|
||
Chen Y,
|
||
Liu Y,
|
||
Yan Y,
|
||
Tian J,
|
||
Zhang B,
|
||
Pu J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jul 25;101(4):e399-e409.
|
||
Epub 2023 May 24
|
||
doi: 10.1212/WNL.0000000000207423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225432" target="_blank">37225432</a><a href="/pmc/articles/PMC10435057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30029089">Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galli J,
|
||
Micheletti S,
|
||
Malerba L,
|
||
Fazzi E,
|
||
Giordano L</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2018 Oct;61:1-3.
|
||
Epub 2018 Jul 18
|
||
doi: 10.1016/j.seizure.2018.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30029089" target="_blank">30029089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29608786">DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pathak S,
|
||
Miller J,
|
||
Morris EC,
|
||
Stewart WCL,
|
||
Greenberg DA</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2018 May;59(5):1011-1019.
|
||
Epub 2018 Apr 2
|
||
doi: 10.1111/epi.14058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29608786" target="_blank">29608786</a><a href="/pmc/articles/PMC5934302" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15955714">Self-perception of factors that precipitate or inhibit seizures in juvenile myoclonic epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva Sousa P,
|
||
Lin K,
|
||
Garzon E,
|
||
Sakamoto AC,
|
||
Yacubian EM</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2005 Jul;14(5):340-6.
|
||
doi: 10.1016/j.seizure.2005.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15955714" target="_blank">15955714</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=%22Myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%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 (22)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225432">Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Si X,
|
||
Wang J,
|
||
Wang Z,
|
||
Chen Y,
|
||
Liu Y,
|
||
Yan Y,
|
||
Tian J,
|
||
Zhang B,
|
||
Pu J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jul 25;101(4):e399-e409.
|
||
Epub 2023 May 24
|
||
doi: 10.1212/WNL.0000000000207423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225432" target="_blank">37225432</a><a href="/pmc/articles/PMC10435057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31506323">Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fanella M,
|
||
Frascarelli M,
|
||
Lambiase C,
|
||
Morano A,
|
||
Unolt M,
|
||
Liberati N,
|
||
Fattouch J,
|
||
Buzzanca A,
|
||
Accinni T,
|
||
Ceccanti M,
|
||
Viganò A,
|
||
Biondi M,
|
||
Colonnese C,
|
||
Giallonardo AT,
|
||
Di Fabio F,
|
||
Pizzuti A,
|
||
Di Bonaventura C,
|
||
Berardelli A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2020 Mar;57(3):151-159.
|
||
Epub 2019 Sep 10
|
||
doi: 10.1136/jmedgenet-2019-106223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31506323" target="_blank">31506323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30029089">Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galli J,
|
||
Micheletti S,
|
||
Malerba L,
|
||
Fazzi E,
|
||
Giordano L</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2018 Oct;61:1-3.
|
||
Epub 2018 Jul 18
|
||
doi: 10.1016/j.seizure.2018.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30029089" target="_blank">30029089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15660768">Pattern-sensitive epilepsy: electroclinical characteristics, natural history, and delineation of the epileptic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radhakrishnan K,
|
||
St Louis EK,
|
||
Johnson JA,
|
||
McClelland RL,
|
||
Westmoreland BF,
|
||
Klass DW</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2005 Jan;46(1):48-58.
|
||
doi: 10.1111/j.0013-9580.2005.26604.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15660768" target="_blank">15660768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12204289">Genetics of epilepsy: current status and perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaneko S,
|
||
Okada M,
|
||
Iwasa H,
|
||
Yamakawa K,
|
||
Hirose S</span><br />
|
||
<span class="medgenPMjournal">Neurosci Res</span>
|
||
2002 Sep;44(1):11-30.
|
||
doi: 10.1016/s0168-0102(02)00065-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12204289" target="_blank">12204289</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225432">Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Si X,
|
||
Wang J,
|
||
Wang Z,
|
||
Chen Y,
|
||
Liu Y,
|
||
Yan Y,
|
||
Tian J,
|
||
Zhang B,
|
||
Pu J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jul 25;101(4):e399-e409.
|
||
Epub 2023 May 24
|
||
doi: 10.1212/WNL.0000000000207423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225432" target="_blank">37225432</a><a href="/pmc/articles/PMC10435057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30029089">Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galli J,
|
||
Micheletti S,
|
||
Malerba L,
|
||
Fazzi E,
|
||
Giordano L</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2018 Oct;61:1-3.
|
||
Epub 2018 Jul 18
|
||
doi: 10.1016/j.seizure.2018.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30029089" target="_blank">30029089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29047147">Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu SZ,
|
||
Ye H,
|
||
Yang XG,
|
||
Lu ZL,
|
||
Qu Q,
|
||
Qu J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Pharmacol Physiol</span>
|
||
2018 Mar;45(3):226-233.
|
||
Epub 2017 Nov 28
|
||
doi: 10.1111/1440-1681.12877.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29047147" target="_blank">29047147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24061200">GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balan S,
|
||
Sathyan S,
|
||
Radha SK,
|
||
Joseph V,
|
||
Radhakrishnan K,
|
||
Banerjee M</span><br />
|
||
<span class="medgenPMjournal">Pharmacogenet Genomics</span>
|
||
2013 Nov;23(11):605-10.
|
||
doi: 10.1097/FPC.0000000000000000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24061200" target="_blank">24061200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8338210">Immunological aspects of epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aarli JA</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1993 Jan-Feb;15(1):41-9.
|
||
doi: 10.1016/0387-7604(93)90005-s.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8338210" target="_blank">8338210</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%201%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225432">Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Si X,
|
||
Wang J,
|
||
Wang Z,
|
||
Chen Y,
|
||
Liu Y,
|
||
Yan Y,
|
||
Tian J,
|
||
Zhang B,
|
||
Pu J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jul 25;101(4):e399-e409.
|
||
Epub 2023 May 24
|
||
doi: 10.1212/WNL.0000000000207423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225432" target="_blank">37225432</a><a href="/pmc/articles/PMC10435057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21109740">Frequency of epilepsies in family members of patients with different epileptic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sozmen V,
|
||
Baybas S,
|
||
Dirican A,
|
||
Koksal A,
|
||
Ozturk M</span><br />
|
||
<span class="medgenPMjournal">Eur Neurol</span>
|
||
2011;65(1):4-9.
|
||
Epub 2010 Nov 25
|
||
doi: 10.1159/000322125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21109740" target="_blank">21109740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16378686">Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Norberg A,
|
||
Forsgren L,
|
||
Holmberg D,
|
||
Holmberg M</span><br />
|
||
<span class="medgenPMjournal">Neurosci Lett</span>
|
||
2006 Mar 27;396(2):137-42.
|
||
Epub 2005 Dec 27
|
||
doi: 10.1016/j.neulet.2005.11.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16378686" target="_blank">16378686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15660768">Pattern-sensitive epilepsy: electroclinical characteristics, natural history, and delineation of the epileptic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radhakrishnan K,
|
||
St Louis EK,
|
||
Johnson JA,
|
||
McClelland RL,
|
||
Westmoreland BF,
|
||
Klass DW</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2005 Jan;46(1):48-58.
|
||
doi: 10.1111/j.0013-9580.2005.26604.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15660768" target="_blank">15660768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225432">Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
||
Si X,
|
||
Wang J,
|
||
Wang Z,
|
||
Chen Y,
|
||
Liu Y,
|
||
Yan Y,
|
||
Tian J,
|
||
Zhang B,
|
||
Pu J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jul 25;101(4):e399-e409.
|
||
Epub 2023 May 24
|
||
doi: 10.1212/WNL.0000000000207423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225432" target="_blank">37225432</a><a href="/pmc/articles/PMC10435057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24061200">GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balan S,
|
||
Sathyan S,
|
||
Radha SK,
|
||
Joseph V,
|
||
Radhakrishnan K,
|
||
Banerjee M</span><br />
|
||
<span class="medgenPMjournal">Pharmacogenet Genomics</span>
|
||
2013 Nov;23(11):605-10.
|
||
doi: 10.1097/FPC.0000000000000000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24061200" target="_blank">24061200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19953286">BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Layouni S,
|
||
Buresi C,
|
||
Thomas P,
|
||
Malafosse A,
|
||
Dogui M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2010 Feb;31(1):53-6.
|
||
Epub 2009 Dec 2
|
||
doi: 10.1007/s10072-009-0190-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19953286" target="_blank">19953286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14631097">Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapoor A,
|
||
Vijai J,
|
||
Ravishankar HM,
|
||
Satishchandra P,
|
||
Radhakrishnan K,
|
||
Anand A</span><br />
|
||
<span class="medgenPMjournal">J Genet</span>
|
||
2003 Apr-Aug;82(1-2):17-21.
|
||
doi: 10.1007/BF02715876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14631097" target="_blank">14631097</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=%22Myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%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 (16)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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</div>
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<div class=" bottom">
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||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1850778%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850778%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1850778%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1850778%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=254770" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myoclonic%20epilepsy,%20juvenile,%20susceptibility%20to,%201" 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=(myoclonic%20epilepsy%2C%20juvenile%2C%20susceptibility%20to%2C%201)%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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<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=608815" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=114327[geneid]" target="_blank">View EFHC1 variations in ClinVar</a></li><li><a href="/nuccore/291084842" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=254770" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epilepsy_myoclonic_juvenile" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Myoclonic%20epilepsy,%20juvenile,%20susceptibility%20to,%201" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Myoclonic%20epilepsy,%20juvenile,%20susceptibility%20to,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Myoclonic%20epilepsy,%20juvenile,%20susceptibility%20to,%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=342587" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1850778[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca788584f3725e59936ec9">Myoclonic epilepsy, juvenile, susceptibility to, 1</a>
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