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<meta name="keywords" content="C3502809, disease or syndrome, epilepsy, generalized, with febrile seizures plus, gefs+, generalised epilepsy with febrile seizures-plus, generalized epilepsy with febrile seizures plus, generalized epilepsy with febrile seizures-plus, genetic epilepsy with febrile seizures plus, genetic epilepsy with febrile seizures-plus, 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="SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=503203
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ConceptID=C3502809
|
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1318/bin/gefs-Image002.gif" src-large="/books/NBK1318/bin/gefs-Image002.jpg" /></a><br /><a href="/books/NBK1318/figure/gefs.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1318/bin/gefs-Image001.gif" src-large="/books/NBK1318/bin/gefs-Image001.jpg" /></a><br /><a href="/books/NBK1318/figure/gefs.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1318/bin/gefs-Image003.gif" src-large="/books/NBK1318/bin/gefs-Image003.jpg" /></a><br /><a href="/books/NBK1318/figure/gefs.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Generalized epilepsy with febrile seizures plus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>503203</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:">C3502809</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Generalized Epilepsy with Febrile Seizures Plus</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Genetic epilepsy with febrile seizures plus (699688008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018214" target="_blank">MONDO:0018214</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS604233" target="_blank">PS604233</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36387">ORPHA36387</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1318" target="_blank">SCN1A Seizure Disorders</a></div><div>SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1318#gefs.Summary" target="NBK1318">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.GeneReview_Scope" target="NBK1318">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Diagnosis" target="NBK1318">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Clinical_Characteristics" target="NBK1318">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Genetically_Related_Allelic_Disorde" target="NBK1318">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Differential_Diagnosis" target="NBK1318">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Management" target="NBK1318">Management</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Genetic_Counseling" target="NBK1318">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Resources" target="NBK1318">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Molecular_Genetics" target="NBK1318">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.Chapter_Notes" target="NBK1318">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1318#gefs.References" target="NBK1318">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ian O Miller | Marcio A Sotero de Menezes <a href="/books/NBK1318" target="NBK1318" title="NCBI Bookshelf: SCN1A Seizure Disorders">view full author information</a></div></div>
|
||
</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 />Some people with GEFS+ have seizure disorders of intermediate severity that may not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet syndrome.<br /><br />Family members with GEFS+ may have different combinations of febrile seizures and epilepsy. For example, one affected family member may have only febrile seizures, while another also has myoclonic epilepsy. While GEFS+ is usually diagnosed in families, it can occur in individuals with no history of the condition in their family.<br /><br />A condition called Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected infants typically have prolonged seizures lasting several minutes (status epilepticus), which are triggered by fever. Other seizure types, including afebrile seizures, begin in early childhood. These types can include myoclonic or absence seizures. In Dravet syndrome, these seizures are difficult to control with medication, and they can worsen over time. A decline in brain function is also common in Dravet syndrome. Affected individuals usually develop normally in the first year of life, but then development stalls, and some affected children lose already-acquired skills (developmental regression). Many people with Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.<br /><br />The most common and mildest feature of the GEFS+ spectrum is simple febrile seizures, which begin in infancy and usually stop by age 5. When the febrile seizures continue after age 5 or other types of seizure develop, the condition is called febrile seizures plus (FS+). Seizures in FS+ usually end in early adolescence.<br /><br />Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures (epilepsy) of other types, including seizures that are not related to fevers (afebrile seizures). The additional seizure types usually involve both sides of the brain (generalized seizures); however, seizures that involve only one side of the brain (partial seizures) occur in some affected individuals. The most common types of seizure in people with GEFS+ include myoclonic seizures, which cause involuntary muscle twitches; atonic seizures, which involve sudden episodes of weak muscle tone; and absence seizures, which cause loss of consciousness for short periods that appear as staring spells. <a target="_blank" href="https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus">https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus</a></div></div>
|
||
</div>
|
||
|
||
<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3502809[DISCUI]&test_type=Clinical" ref="ncbi_uid=503203">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1318/" ref="ncbi_uid=503203">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=503203" ref="ncbi_uid=503203">V</a></span></span><span class="TLline">Generalized epilepsy with febrile seizures plus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826100" ref="tree=MeSH" title="MedGen record for Familial partial epilepsy">Familial partial epilepsy</a></span><ul><li><span class="matched_ds">Generalized epilepsy with febrile seizures plus</span></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/19236456">Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fendri-Kriaa N,
|
||
Kammoun F,
|
||
Rebai A,
|
||
Kolsi D,
|
||
Hadj Salem I,
|
||
Fakhfakh F,
|
||
Triki C</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2009 Jun;16(6):697-704.
|
||
Epub 2009 Feb 19
|
||
doi: 10.1111/j.1468-1331.2009.02570.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19236456" target="_blank">19236456</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17181426">Role of genetics in the diagnosis and treatment of epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraro TN,
|
||
Dlugos DJ,
|
||
Buono RJ</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2006 Dec;6(12):1789-800.
|
||
doi: 10.1586/14737175.6.12.1789.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17181426" target="_blank">17181426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16238709">The role of genetics and ethnicity in epilepsy management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand Suppl</span>
|
||
2005;181:47-51.
|
||
doi: 10.1111/j.1600-0404.2005.00509.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16238709" target="_blank">16238709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22generalized%20epilepsy%20with%20febrile%20seizures%20plus%22%5Btiab%3A~0%5D)%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 (4)</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/38744284">Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang F,
|
||
Begemann A,
|
||
Reichhart N,
|
||
Haeckel A,
|
||
Steindl K,
|
||
Schellenberger E,
|
||
Sturm RF,
|
||
Barth M,
|
||
Bassani S,
|
||
Boonsawat P,
|
||
Courtin T,
|
||
Delobel B;
|
||
EuroEPINOMICS-RES Dravet working group,
|
||
Gunning B,
|
||
Hardies K,
|
||
Jennesson M,
|
||
Legoff L,
|
||
Linnankivi T,
|
||
Prouteau C,
|
||
Smal N,
|
||
Spodenkiewicz M,
|
||
Toelle SP,
|
||
Van Gassen K,
|
||
Van Paesschen W,
|
||
Verbeek N,
|
||
Ziegler A,
|
||
Zweier M,
|
||
Horn AHC,
|
||
Sticht H,
|
||
Lerche H,
|
||
Weckhuysen S,
|
||
Strauß O,
|
||
Rauch A</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Jun 6;111(6):1184-1205.
|
||
Epub 2024 May 13
|
||
doi: 10.1016/j.ajhg.2024.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38744284" target="_blank">38744284</a><a href="/pmc/articles/PMC11179416" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37467479">SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Hugte EJH,
|
||
Lewerissa EI,
|
||
Wu KM,
|
||
Scheefhals N,
|
||
Parodi G,
|
||
van Voorst TW,
|
||
Puvogel S,
|
||
Kogo N,
|
||
Keller JM,
|
||
Frega M,
|
||
Schubert D,
|
||
Schelhaas HJ,
|
||
Verhoeven J,
|
||
Majoie M,
|
||
van Bokhoven H,
|
||
Nadif Kasri N</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5153-5167.
|
||
doi: 10.1093/brain/awad245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37467479" target="_blank">37467479</a><a href="/pmc/articles/PMC10689919" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28842445">Genetic epilepsy with febrile seizures plus: Refining the spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang YH,
|
||
Burgess R,
|
||
Malone JP,
|
||
Glubb GC,
|
||
Helbig KL,
|
||
Vadlamudi L,
|
||
Kivity S,
|
||
Afawi Z,
|
||
Bleasel A,
|
||
Grattan-Smith P,
|
||
Grinton BE,
|
||
Bellows ST,
|
||
Vears DF,
|
||
Damiano JA,
|
||
Goldberg-Stern H,
|
||
Korczyn AD,
|
||
Dibbens LM,
|
||
Ruzzo EK,
|
||
Hildebrand MS,
|
||
Berkovic SF,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2017 Sep 19;89(12):1210-1219.
|
||
Epub 2017 Aug 25
|
||
doi: 10.1212/WNL.0000000000004384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28842445" target="_blank">28842445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25917466">Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camfield P,
|
||
Camfield C</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2015 Jun;17(2):124-33.
|
||
doi: 10.1684/epd.2015.0737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25917466" target="_blank">25917466</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11579435">Ion channels and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lerche H,
|
||
Jurkat-Rott K,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Summer;106(2):146-59.
|
||
doi: 10.1002/ajmg.1582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11579435" target="_blank">11579435</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38744284">Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang F,
|
||
Begemann A,
|
||
Reichhart N,
|
||
Haeckel A,
|
||
Steindl K,
|
||
Schellenberger E,
|
||
Sturm RF,
|
||
Barth M,
|
||
Bassani S,
|
||
Boonsawat P,
|
||
Courtin T,
|
||
Delobel B;
|
||
EuroEPINOMICS-RES Dravet working group,
|
||
Gunning B,
|
||
Hardies K,
|
||
Jennesson M,
|
||
Legoff L,
|
||
Linnankivi T,
|
||
Prouteau C,
|
||
Smal N,
|
||
Spodenkiewicz M,
|
||
Toelle SP,
|
||
Van Gassen K,
|
||
Van Paesschen W,
|
||
Verbeek N,
|
||
Ziegler A,
|
||
Zweier M,
|
||
Horn AHC,
|
||
Sticht H,
|
||
Lerche H,
|
||
Weckhuysen S,
|
||
Strauß O,
|
||
Rauch A</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Jun 6;111(6):1184-1205.
|
||
Epub 2024 May 13
|
||
doi: 10.1016/j.ajhg.2024.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38744284" target="_blank">38744284</a><a href="/pmc/articles/PMC11179416" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37467479">SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Hugte EJH,
|
||
Lewerissa EI,
|
||
Wu KM,
|
||
Scheefhals N,
|
||
Parodi G,
|
||
van Voorst TW,
|
||
Puvogel S,
|
||
Kogo N,
|
||
Keller JM,
|
||
Frega M,
|
||
Schubert D,
|
||
Schelhaas HJ,
|
||
Verhoeven J,
|
||
Majoie M,
|
||
van Bokhoven H,
|
||
Nadif Kasri N</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5153-5167.
|
||
doi: 10.1093/brain/awad245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37467479" target="_blank">37467479</a><a href="/pmc/articles/PMC10689919" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34038384">Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heron SE,
|
||
Regan BM,
|
||
Harris RV,
|
||
Gardner AE,
|
||
Coleman MJ,
|
||
Bennett MF,
|
||
Grinton BE,
|
||
Helbig KL,
|
||
Sperling MR,
|
||
Haut S,
|
||
Geller EB,
|
||
Widdess-Walsh P,
|
||
Pelekanos JT,
|
||
Bahlo M,
|
||
Petrovski S,
|
||
Heinzen EL,
|
||
Hildebrand MS,
|
||
Corbett MA,
|
||
Scheffer IE,
|
||
Gécz J,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 May 4;96(18):e2251-e2260.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1212/WNL.0000000000011855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34038384" target="_blank">34038384</a><a href="/pmc/articles/PMC8166436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16359471">Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Harkin LA,
|
||
Dibbens LM,
|
||
Mulley JC,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2005;46 Suppl 10:41-7.
|
||
doi: 10.1111/j.1528-1167.2005.00358.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16359471" target="_blank">16359471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11701287">Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Wallace R,
|
||
Mulley JC,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2001 Nov;23(7):732-5.
|
||
doi: 10.1016/s0387-7604(01)00272-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11701287" target="_blank">11701287</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%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 (61)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21480876">Therapy for hyperthermia-induced seizures in Scn1a mutant rats.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayashi K,
|
||
Ueshima S,
|
||
Ouchida M,
|
||
Mashimo T,
|
||
Nishiki T,
|
||
Sendo T,
|
||
Serikawa T,
|
||
Matsui H,
|
||
Ohmori I</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2011 May;52(5):1010-7.
|
||
Epub 2011 Apr 11
|
||
doi: 10.1111/j.1528-1167.2011.03046.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21480876" target="_blank">21480876</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20722665">Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelley SA,
|
||
Kossoff EH</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 Nov;52(11):988-93.
|
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Epub 2010 Aug 16
|
||
doi: 10.1111/j.1469-8749.2010.03744.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20722665" target="_blank">20722665</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20367785">Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scanlon A,
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Cook SS</span><br />
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<span class="medgenPMjournal">J Spec Pediatr Nurs</span>
|
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2010 Apr;15(2):154-9.
|
||
doi: 10.1111/j.1744-6155.2010.00230.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20367785" target="_blank">20367785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16238709">The role of genetics and ethnicity in epilepsy management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE</span><br />
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<span class="medgenPMjournal">Acta Neurol Scand Suppl</span>
|
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2005;181:47-51.
|
||
doi: 10.1111/j.1600-0404.2005.00509.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16238709" target="_blank">16238709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12060004">Epileptic syndromes in childhood: clinical features, outcomes, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camfield P,
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Camfield C</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2002;43 Suppl 3:27-32.
|
||
doi: 10.1046/j.1528-1157.43.s.3.3.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12060004" target="_blank">12060004</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38744284">Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang F,
|
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Begemann A,
|
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Reichhart N,
|
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Haeckel A,
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Steindl K,
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||
Schellenberger E,
|
||
Sturm RF,
|
||
Barth M,
|
||
Bassani S,
|
||
Boonsawat P,
|
||
Courtin T,
|
||
Delobel B;
|
||
EuroEPINOMICS-RES Dravet working group,
|
||
Gunning B,
|
||
Hardies K,
|
||
Jennesson M,
|
||
Legoff L,
|
||
Linnankivi T,
|
||
Prouteau C,
|
||
Smal N,
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Spodenkiewicz M,
|
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Toelle SP,
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Van Gassen K,
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Van Paesschen W,
|
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Verbeek N,
|
||
Ziegler A,
|
||
Zweier M,
|
||
Horn AHC,
|
||
Sticht H,
|
||
Lerche H,
|
||
Weckhuysen S,
|
||
Strauß O,
|
||
Rauch A</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Jun 6;111(6):1184-1205.
|
||
Epub 2024 May 13
|
||
doi: 10.1016/j.ajhg.2024.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38744284" target="_blank">38744284</a><a href="/pmc/articles/PMC11179416" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37467479">SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Hugte EJH,
|
||
Lewerissa EI,
|
||
Wu KM,
|
||
Scheefhals N,
|
||
Parodi G,
|
||
van Voorst TW,
|
||
Puvogel S,
|
||
Kogo N,
|
||
Keller JM,
|
||
Frega M,
|
||
Schubert D,
|
||
Schelhaas HJ,
|
||
Verhoeven J,
|
||
Majoie M,
|
||
van Bokhoven H,
|
||
Nadif Kasri N</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5153-5167.
|
||
doi: 10.1093/brain/awad245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37467479" target="_blank">37467479</a><a href="/pmc/articles/PMC10689919" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34038384">Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heron SE,
|
||
Regan BM,
|
||
Harris RV,
|
||
Gardner AE,
|
||
Coleman MJ,
|
||
Bennett MF,
|
||
Grinton BE,
|
||
Helbig KL,
|
||
Sperling MR,
|
||
Haut S,
|
||
Geller EB,
|
||
Widdess-Walsh P,
|
||
Pelekanos JT,
|
||
Bahlo M,
|
||
Petrovski S,
|
||
Heinzen EL,
|
||
Hildebrand MS,
|
||
Corbett MA,
|
||
Scheffer IE,
|
||
Gécz J,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 May 4;96(18):e2251-e2260.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1212/WNL.0000000000011855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34038384" target="_blank">34038384</a><a href="/pmc/articles/PMC8166436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25917466">Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camfield P,
|
||
Camfield C</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2015 Jun;17(2):124-33.
|
||
doi: 10.1684/epd.2015.0737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25917466" target="_blank">25917466</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20722665">Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelley SA,
|
||
Kossoff EH</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2010 Nov;52(11):988-93.
|
||
Epub 2010 Aug 16
|
||
doi: 10.1111/j.1469-8749.2010.03744.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20722665" target="_blank">20722665</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37467479">SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Hugte EJH,
|
||
Lewerissa EI,
|
||
Wu KM,
|
||
Scheefhals N,
|
||
Parodi G,
|
||
van Voorst TW,
|
||
Puvogel S,
|
||
Kogo N,
|
||
Keller JM,
|
||
Frega M,
|
||
Schubert D,
|
||
Schelhaas HJ,
|
||
Verhoeven J,
|
||
Majoie M,
|
||
van Bokhoven H,
|
||
Nadif Kasri N</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5153-5167.
|
||
doi: 10.1093/brain/awad245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37467479" target="_blank">37467479</a><a href="/pmc/articles/PMC10689919" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34038384">Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heron SE,
|
||
Regan BM,
|
||
Harris RV,
|
||
Gardner AE,
|
||
Coleman MJ,
|
||
Bennett MF,
|
||
Grinton BE,
|
||
Helbig KL,
|
||
Sperling MR,
|
||
Haut S,
|
||
Geller EB,
|
||
Widdess-Walsh P,
|
||
Pelekanos JT,
|
||
Bahlo M,
|
||
Petrovski S,
|
||
Heinzen EL,
|
||
Hildebrand MS,
|
||
Corbett MA,
|
||
Scheffer IE,
|
||
Gécz J,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 May 4;96(18):e2251-e2260.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1212/WNL.0000000000011855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34038384" target="_blank">34038384</a><a href="/pmc/articles/PMC8166436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25917466">Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camfield P,
|
||
Camfield C</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2015 Jun;17(2):124-33.
|
||
doi: 10.1684/epd.2015.0737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25917466" target="_blank">25917466</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831750">Sodium channel SCN1A and epilepsy: mutations and mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escayg A,
|
||
Goldin AL</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2010 Sep;51(9):1650-8.
|
||
doi: 10.1111/j.1528-1167.2010.02640.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831750" target="_blank">20831750</a><a href="/pmc/articles/PMC2937162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15880351">SCN1A mutations and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulley JC,
|
||
Scheffer IE,
|
||
Petrou S,
|
||
Dibbens LM,
|
||
Berkovic SF,
|
||
Harkin LA</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2005 Jun;25(6):535-42.
|
||
doi: 10.1002/humu.20178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15880351" target="_blank">15880351</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%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 (62)</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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|
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<div class="supplemental col three_col last">
|
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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=C3502809%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C3502809%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3502809%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS604233" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=36387" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Generalized%20epilepsy%20with%20febrile%20seizures%20plus" 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=(%22generalized%20epilepsy%20with%20febrile%20seizures%20plus%22%5Btiab%3A~0%5D)%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="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Generalized%20epilepsy%20with%20febrile%20seizures%20plus" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18641/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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