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<meta name="keywords" content="C1838604, eca1, epilepsy, childhood absence 1, epilepsy, childhood absence, 1, epilepsy, childhood absence, susceptibility to, 1, finding, 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="Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA (Crunelli and Leresche, 2002). Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy The ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see 600669), which also maps to 8q24. Susceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see 607681), conferred by variation in the GABRG2 gene (137164) on chromosome 5q31.1; ECA4 (611136), conferred by variation in the GABRA1 gene (137160) on chromosome 5q34; ECA5 (612269), conferred by variation in the GABRB3 gene (137192) on chromosome 15q12; and ECA6 (see 611942), conferred by variation in the CACNA1H gene (607904) on chromosome 16p13. See EIG11 (607628) for discussion of a locus previously designated ECA3 on chromosome 3q26." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=325057
|
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ConceptID=C1838604
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy, childhood absence, susceptibility to, 1<span class="h1sub">(ECA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325057</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:">C1838604</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Epilepsy, childhood absence 1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020759" target="_blank">MONDO:0020759</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/600131" target="_blank">600131</a></td></tr>
|
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</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>
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||
<div class="portlet_content ln">Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA (Crunelli and Leresche, 2002). Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy The ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see 600669), which also maps to 8q24. Susceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see 607681), conferred by variation in the GABRG2 gene (137164) on chromosome 5q31.1; ECA4 (611136), conferred by variation in the GABRA1 gene (137160) on chromosome 5q34; ECA5 (612269), conferred by variation in the GABRB3 gene (137192) on chromosome 15q12; and ECA6 (see 611942), conferred by variation in the CACNA1H gene (607904) on chromosome 16p13. See EIG11 (607628) for discussion of a locus previously designated ECA3 on chromosome 3q26. [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 class="portlet mgSection" id="ID_117">
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<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 />Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.<br /><br />Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).<br /><br />In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks. <a target="_blank" href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy">https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy</a></div></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_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) 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) 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_867392"><div><strong>EEG with polyspike wave complexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867392</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.">C4021757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of complexes of repetitive spikes and waves in EEG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867392">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20polyspike%20wave%20complexes%22%5BClinical%20Features%5D%20OR%20867392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892339"><div><strong>EEG with spike-wave complexes (>3.5 Hz)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892339</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.">C4023684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892339">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20spike-wave%20complexes%20(%3E3.5%20Hz)%22%5BClinical%20Features%5D%20OR%20892339%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="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_867392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with polyspike wave complexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with spike-wave complexes (>3.5 Hz)</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_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>
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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>
|
||
<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="matched_ds"><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">Epilepsy, childhood absence, 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=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="TLclosed"><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"><a href="/medgen/342587" ref="tree=GTR&ncbi_uid=342587&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]&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/4989" ref="tree=MeSH" title="MedGen record for Absence seizure">Absence seizure</a></span><ul><li><span class="matched_ds">Epilepsy, childhood absence, susceptibility to, 1</span><ul><li><span class="TLline"><a href="/medgen/334707" ref="tree=MeSH" title="MedGen record for Epilepsy, childhood absence 2">Epilepsy, childhood absence 2</a></span></li></ul></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/36524286">Systemic inflammation as a biomarker of seizure propensity and a target for treatment to reduce seizure propensity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stredny C,
|
||
Rotenberg A,
|
||
Leviton A,
|
||
Loddenkemper T</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Mar;8(1):221-234.
|
||
Epub 2023 Jan 23
|
||
doi: 10.1002/epi4.12684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36524286" target="_blank">36524286</a><a href="/pmc/articles/PMC9978091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29924869">Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CG,
|
||
Lee J,
|
||
Lee M</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2018;13(6):e0199321.
|
||
Epub 2018 Jun 20
|
||
doi: 10.1371/journal.pone.0199321.
|
||
<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 class="nl"><a target="_blank" href="/pubmed/24030948">Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas RH,
|
||
Chung SK,
|
||
Wood SE,
|
||
Cushion TD,
|
||
Drew CJ,
|
||
Hammond CL,
|
||
Vanbellinghen JF,
|
||
Mullins JG,
|
||
Rees MI</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2013 Oct;136(Pt 10):3085-95.
|
||
Epub 2013 Sep 11
|
||
doi: 10.1093/brain/awt207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24030948" target="_blank">24030948</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epilepsy%2C%20childhood%20absence%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 (5)</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/38035091">Antibody induced seizure susceptibility and impaired cognitive performance in a passive transfer rat model of autoimmune encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pişkin ŞA,
|
||
Korkmaz HY,
|
||
Ulusoy CA,
|
||
Şanlı E,
|
||
Küçükali CI,
|
||
Onat F,
|
||
Tüzün E,
|
||
Çarçak N</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1268986.
|
||
Epub 2023 Nov 15
|
||
doi: 10.3389/fimmu.2023.1268986.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38035091" target="_blank">38035091</a><a href="/pmc/articles/PMC10684964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/30963251">An update on the central nervous system manifestations of neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nix JS,
|
||
Blakeley J,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2020 Apr;139(4):625-641.
|
||
Epub 2019 Apr 8
|
||
doi: 10.1007/s00401-019-02002-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30963251" target="_blank">30963251</a><a href="/pmc/articles/PMC6819239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29741207">Genetic generalized epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mullen SA,
|
||
Berkovic SF;
|
||
ILAE Genetics Commission</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2018 Jun;59(6):1148-1153.
|
||
Epub 2018 May 9
|
||
doi: 10.1111/epi.14042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29741207" target="_blank">29741207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20childhood%20absence%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 (64)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38817604">Causal relationship between rheumatoid arthritis and epilepsy in a European population: a univariate and multivariate Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Ye J,
|
||
He S,
|
||
Ma Z,
|
||
Luo F,
|
||
Miao J,
|
||
Li H,
|
||
Cao P,
|
||
Zhu J</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1389549.
|
||
Epub 2024 May 16
|
||
doi: 10.3389/fimmu.2024.1389549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38817604" target="_blank">38817604</a><a href="/pmc/articles/PMC11137193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/34345025">Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerts MJA,
|
||
Lanko K,
|
||
Guzmán-Vega FJ,
|
||
Jackson A,
|
||
Ramakrishnan R,
|
||
Cardona-Londoño KJ,
|
||
Peña-Guerra KA,
|
||
van Bever Y,
|
||
van Paassen BW,
|
||
Kievit A,
|
||
van Slegtenhorst M,
|
||
Allen NM,
|
||
Kehoe CM,
|
||
Robinson HK,
|
||
Pang L,
|
||
Banu SH,
|
||
Zaman M,
|
||
Efthymiou S,
|
||
Houlden H,
|
||
Järvelä I,
|
||
Lauronen L,
|
||
Määttä T,
|
||
Schrauwen I,
|
||
Leal SM,
|
||
Ruivenkamp CAL,
|
||
Barge-Schaapveld DQCM,
|
||
Peeters-Scholte CMPCD,
|
||
Galehdari H,
|
||
Mazaheri N,
|
||
Sisodiya SM,
|
||
Harrison V,
|
||
Sun A,
|
||
Thies J,
|
||
Pedroza LA,
|
||
Lara-Taranchenko Y,
|
||
Chinn IK,
|
||
Lupski JR,
|
||
Garza-Flores A,
|
||
McGlothlin J,
|
||
Yang L,
|
||
Huang S,
|
||
Wang X,
|
||
Jewett T,
|
||
Rosso G,
|
||
Lin X,
|
||
Mohammed S,
|
||
Merritt JL 2nd,
|
||
Mirzaa GM,
|
||
Timms AE,
|
||
Scheck J,
|
||
Elting MW,
|
||
Polstra AM,
|
||
Schenck L,
|
||
Ruzhnikov MRZ,
|
||
Vetro A,
|
||
Montomoli M,
|
||
Guerrini R,
|
||
Koboldt DC,
|
||
Mosher TM,
|
||
Pastore MT,
|
||
McBride KL,
|
||
Peng J,
|
||
Pan Z,
|
||
Willemsen M,
|
||
Koning S,
|
||
Turnpenny PD,
|
||
de Vries BBA,
|
||
Gilissen C,
|
||
Pfundt R,
|
||
Lees M,
|
||
Braddock SR,
|
||
Klemp KC,
|
||
Vansenne F,
|
||
van Gijn ME,
|
||
Quindipan C,
|
||
Deardorff MA,
|
||
Hamm JA,
|
||
Putnam AM,
|
||
Baud R,
|
||
Walsh L,
|
||
Lynch SA,
|
||
Baptista J,
|
||
Person RE,
|
||
Monaghan KG,
|
||
Crunk A,
|
||
Keller-Ramey J,
|
||
Reich A,
|
||
Elloumi HZ,
|
||
Alders M,
|
||
Kerkhof J,
|
||
McConkey H,
|
||
Haghshenas S;
|
||
Genomics England Research Consortium,
|
||
Maroofian R,
|
||
Sadikovic B,
|
||
Banka S,
|
||
Arold ST,
|
||
Barakat TS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Nov;23(11):2122-2137.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1038/s41436-021-01246-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34345025" target="_blank">34345025</a><a href="/pmc/articles/PMC8553606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30963251">An update on the central nervous system manifestations of neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nix JS,
|
||
Blakeley J,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2020 Apr;139(4):625-641.
|
||
Epub 2019 Apr 8
|
||
doi: 10.1007/s00401-019-02002-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30963251" target="_blank">30963251</a><a href="/pmc/articles/PMC6819239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29741207">Genetic generalized epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mullen SA,
|
||
Berkovic SF;
|
||
ILAE Genetics Commission</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2018 Jun;59(6):1148-1153.
|
||
Epub 2018 May 9
|
||
doi: 10.1111/epi.14042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29741207" target="_blank">29741207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20childhood%20absence%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38817604">Causal relationship between rheumatoid arthritis and epilepsy in a European population: a univariate and multivariate Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Ye J,
|
||
He S,
|
||
Ma Z,
|
||
Luo F,
|
||
Miao J,
|
||
Li H,
|
||
Cao P,
|
||
Zhu J</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1389549.
|
||
Epub 2024 May 16
|
||
doi: 10.3389/fimmu.2024.1389549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38817604" target="_blank">38817604</a><a href="/pmc/articles/PMC11137193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37602490">Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He Z,
|
||
Li Y,
|
||
Liu S,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1452-1459.
|
||
Epub 2023 Aug 26
|
||
doi: 10.1002/epi4.12818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37602490" target="_blank">37602490</a><a href="/pmc/articles/PMC10690698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/34992582">Research Progress on the Effect of Epilepsy and Antiseizure Medications on PCOS Through HPO Axis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Zhang L,
|
||
Wei N,
|
||
Tai Z,
|
||
Yu C,
|
||
Xu Z</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:787854.
|
||
Epub 2021 Dec 21
|
||
doi: 10.3389/fendo.2021.787854.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34992582" target="_blank">34992582</a><a href="/pmc/articles/PMC8726549" 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,
|
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Malerba L,
|
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Fazzi E,
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Giordano L</span><br />
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<span class="medgenPMjournal">Seizure</span>
|
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2018 Oct;61:1-3.
|
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Epub 2018 Jul 18
|
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doi: 10.1016/j.seizure.2018.07.009.
|
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<span class="bold">PMID: </span><a href="/pubmed/30029089" target="_blank">30029089</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20childhood%20absence%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 (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37602490">Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He Z,
|
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Li Y,
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Liu S,
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Li J</span><br />
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<span class="medgenPMjournal">Epilepsia Open</span>
|
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2023 Dec;8(4):1452-1459.
|
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Epub 2023 Aug 26
|
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doi: 10.1002/epi4.12818.
|
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<span class="bold">PMID: </span><a href="/pubmed/37602490" target="_blank">37602490</a><a href="/pmc/articles/PMC10690698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225432">Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Fang Y,
|
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Si X,
|
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Wang J,
|
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Wang Z,
|
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Chen Y,
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Liu Y,
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Yan Y,
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Tian J,
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Zhang B,
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Pu J</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
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2023 Jul 25;101(4):e399-e409.
|
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Epub 2023 May 24
|
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doi: 10.1212/WNL.0000000000207423.
|
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<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>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35595190">Testicular androgens determining the incidence of spike-wave discharges in taiep rats: A model of H-ABC leukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carmen C,
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Ibarra-Hernández JM,
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Estefania GP,
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Eguibar JR</span><br />
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<span class="medgenPMjournal">Neurosci Lett</span>
|
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2022 Jun 21;782:136684.
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Epub 2022 May 17
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doi: 10.1016/j.neulet.2022.136684.
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<span class="bold">PMID: </span><a href="/pubmed/35595190" target="_blank">35595190</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31054517">De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Xie H,
|
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Su W,
|
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Pei J,
|
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Zhang Y,
|
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Gao K,
|
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Li J,
|
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Ma X,
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Zhang Y,
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Wu X,
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Jiang Y</span><br />
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<span class="medgenPMjournal">Epilepsy Res</span>
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2019 Aug;154:55-61.
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Epub 2019 Apr 22
|
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doi: 10.1016/j.eplepsyres.2019.04.005.
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<span class="bold">PMID: </span><a href="/pubmed/31054517" target="_blank">31054517</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/22704920">Diagnosis and long-term course of Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2012 Sep;16 Suppl 1:S5-8.
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<span class="bold">PMID: </span><a href="/pubmed/22704920" target="_blank">22704920</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20childhood%20absence%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38165337">Molecular and Phenotypic Characterization of the RORB-Related Disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gokce-Samar Z,
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Vetro A,
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De Bellescize J,
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Pisano T,
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Monteiro L,
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Penaud N,
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Korff CM,
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Fluss J,
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Marini C,
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Cesaroni E,
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Alvarez BM,
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Sanlaville D,
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Chatron N,
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Arzimanoglou AA,
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Labalme A,
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Cuddapah VA,
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Ruggiero SM,
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Lecoquierre F,
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Nicolas G,
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Marie GA,
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Lebas A,
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Testard HO,
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Helbig KL,
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Ruiz A,
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Ngoh A,
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Kurian MA,
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Reid K,
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Spaull R,
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Joset P,
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Ramantani G,
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Steindl K,
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Krenn M,
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Gerstl L,
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Vieker S,
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Craiu D,
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Au M,
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Isapof A,
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Zacher P,
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Platzer K,
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Mohnke I,
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Radtke M,
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Jamra RA,
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Helbig I,
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Jansen FE,
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Koop K,
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Rudolf G,
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Küry S,
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Courchet J,
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Guerrini R,
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Lesca G</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2024 Jan 23;102(2):e207945.
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||
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/38035091">Antibody induced seizure susceptibility and impaired cognitive performance in a passive transfer rat model of autoimmune encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pişkin ŞA,
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Korkmaz HY,
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Ulusoy CA,
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Şanlı E,
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Küçükali CI,
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Onat F,
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Tüzün E,
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Çarçak N</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2023;14:1268986.
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Epub 2023 Nov 15
|
||
doi: 10.3389/fimmu.2023.1268986.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38035091" target="_blank">38035091</a><a href="/pmc/articles/PMC10684964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37602490">Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He Z,
|
||
Li Y,
|
||
Liu S,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1452-1459.
|
||
Epub 2023 Aug 26
|
||
doi: 10.1002/epi4.12818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37602490" target="_blank">37602490</a><a href="/pmc/articles/PMC10690698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/31054517">De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie H,
|
||
Su W,
|
||
Pei J,
|
||
Zhang Y,
|
||
Gao K,
|
||
Li J,
|
||
Ma X,
|
||
Zhang Y,
|
||
Wu X,
|
||
Jiang Y</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2019 Aug;154:55-61.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1016/j.eplepsyres.2019.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054517" target="_blank">31054517</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20childhood%20absence%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 (45)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1838604%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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||
<li><a href="/gtr/tests?term=C1838604%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1838604%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=600131" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epilepsy,%20childhood%20absence,%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=(epilepsy%2C%20childhood%20absence%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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=600131" 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_childhood_absence_1_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epilepsy,%20childhood%20absence,%20susceptibility%20to,%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Epilepsy,%20childhood%20absence,%20susceptibility%20to,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Epilepsy,%20childhood%20absence,%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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