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<meta name="keywords" content="C1858674, disease or syndrome, gefs+, type 3, gefs+3, gefs, type 3, gefsp3, generalized epilepsy with febrile seizures plus 3, generalized epilepsy with febrile seizures plus, type 3, 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="Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2; 607681). Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=347692
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ConceptID=C1858674
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Generalized epilepsy with febrile seizures plus 3<span class="h1sub">(GEFSP3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347692</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:">C1858674</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>GEFS+, TYPE 3; GEFSP3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/137164" target="_blank">137164</a>; <a href="https://omim.org/entry/607681" target="_blank">607681</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">Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2; 607681). Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. [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>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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.<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 />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 />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 />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. <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>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(generalized%20epilepsy%20with%20febrile%20seizures%20plus%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37523795">Gastrointestinal and eating problems in SCN1A-related seizure disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minderhoud CA,
|
||
Postma A,
|
||
Jansen FE,
|
||
Verhoeven JS,
|
||
Schrijver JJ,
|
||
Goudswaard J,
|
||
Andreae G,
|
||
Otte WM,
|
||
Braun KPJ,
|
||
Brilstra EH</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Sep;146:109361.
|
||
Epub 2023 Jul 29
|
||
doi: 10.1016/j.yebeh.2023.109361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37523795" target="_blank">37523795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27521439">Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johannesen K,
|
||
Marini C,
|
||
Pfeffer S,
|
||
Møller RS,
|
||
Dorn T,
|
||
Niturad CE,
|
||
Gardella E,
|
||
Weber Y,
|
||
Søndergård M,
|
||
Hjalgrim H,
|
||
Nikanorova M,
|
||
Becker F,
|
||
Larsen LH,
|
||
Dahl HA,
|
||
Maier O,
|
||
Mei D,
|
||
Biskup S,
|
||
Klein KM,
|
||
Reif PS,
|
||
Rosenow F,
|
||
Elias AF,
|
||
Hudson C,
|
||
Helbig KL,
|
||
Schubert-Bast S,
|
||
Scordo MR,
|
||
Craiu D,
|
||
Djémié T,
|
||
Hoffman-Zacharska D,
|
||
Caglayan H,
|
||
Helbig I,
|
||
Serratosa J,
|
||
Striano P,
|
||
De Jonghe P,
|
||
Weckhuysen S,
|
||
Suls A,
|
||
Muru K,
|
||
Talvik I,
|
||
Talvik T,
|
||
Muhle H,
|
||
Borggraefe I,
|
||
Rost I,
|
||
Guerrini R,
|
||
Lerche H,
|
||
Lemke JR,
|
||
Rubboli G,
|
||
Maljevic S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Sep 13;87(11):1140-51.
|
||
Epub 2016 Aug 12
|
||
doi: 10.1212/WNL.0000000000003087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27521439" target="_blank">27521439</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/22944210">De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan EH,
|
||
Razak SA,
|
||
Abdullah JM,
|
||
Mohamed Yusoff AA</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2012 Dec;102(3):210-5.
|
||
Epub 2012 Sep 1
|
||
doi: 10.1016/j.eplepsyres.2012.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22944210" target="_blank">22944210</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11313220">Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veggiotti P,
|
||
Cardinali S,
|
||
Montalenti E,
|
||
Gatti A,
|
||
Lanzi G</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2001 Jan-Mar;3(1):29-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11313220" target="_blank">11313220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37523795">Gastrointestinal and eating problems in SCN1A-related seizure disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minderhoud CA,
|
||
Postma A,
|
||
Jansen FE,
|
||
Verhoeven JS,
|
||
Schrijver JJ,
|
||
Goudswaard J,
|
||
Andreae G,
|
||
Otte WM,
|
||
Braun KPJ,
|
||
Brilstra EH</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2023 Sep;146:109361.
|
||
Epub 2023 Jul 29
|
||
doi: 10.1016/j.yebeh.2023.109361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37523795" target="_blank">37523795</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/30977726">SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisulli F,
|
||
Licchetta L,
|
||
Baldassari S,
|
||
Muccioli L,
|
||
Marconi C,
|
||
Cantalupo G,
|
||
Myers C,
|
||
Menghi V,
|
||
Minardi R,
|
||
Caporali L,
|
||
Marini C,
|
||
Guerrini R,
|
||
Mefford HC,
|
||
Tinuper P,
|
||
Pippucci T</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2019 Apr 1;21(2):185-191.
|
||
doi: 10.1684/epd.2019.1046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30977726" target="_blank">30977726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30680721">Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gataullina S,
|
||
Bienvenu T,
|
||
Nabbout R,
|
||
Huberfeld G,
|
||
Dulac O</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2019 Aug;61(8):891-898.
|
||
Epub 2019 Jan 25
|
||
doi: 10.1111/dmcn.14152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30680721" target="_blank">30680721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11254445">A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escayg A,
|
||
Heils A,
|
||
MacDonald BT,
|
||
Haug K,
|
||
Sander T,
|
||
Meisler MH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2001 Apr;68(4):866-73.
|
||
Epub 2001 Mar 14
|
||
doi: 10.1086/319524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11254445" target="_blank">11254445</a><a href="/pmc/articles/PMC1275640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203%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 (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19782004">SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selmer KK,
|
||
Lund C,
|
||
Brandal K,
|
||
Undlien DE,
|
||
Brodtkorb E</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2009 Nov;16(3):555-7.
|
||
Epub 2009 Sep 24
|
||
doi: 10.1016/j.yebeh.2009.08.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19782004" target="_blank">19782004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15922564">An epilepsy mutation in the beta1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas PT,
|
||
Meadows LS,
|
||
Nicholls J,
|
||
Ragsdale DS</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2005 May;64(3):77-84.
|
||
doi: 10.1016/j.eplepsyres.2005.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15922564" target="_blank">15922564</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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/27045673">Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Surovy M,
|
||
Soltysova A,
|
||
Kolnikova M,
|
||
Sykora P,
|
||
Ilencikova D,
|
||
Ficek A,
|
||
Radvanszky J,
|
||
Kadasi L</span><br />
|
||
<span class="medgenPMjournal">Gen Physiol Biophys</span>
|
||
2016 Jul;35(3):333-42.
|
||
Epub 2016 Apr 5
|
||
doi: 10.4149/gpb_2016002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27045673" target="_blank">27045673</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/18479394">A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weber YG,
|
||
Jacob M,
|
||
Weber G,
|
||
Lerche H</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Nov;49(11):1959-64.
|
||
Epub 2008 May 8
|
||
doi: 10.1111/j.1528-1167.2008.01646.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18479394" target="_blank">18479394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11118488">A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alekov A,
|
||
Rahman MM,
|
||
Mitrovic N,
|
||
Lehmann-Horn F,
|
||
Lerche H</span><br />
|
||
<span class="medgenPMjournal">J Physiol</span>
|
||
2000 Dec 15;529 Pt 3(Pt 3):533-9.
|
||
doi: 10.1111/j.1469-7793.2000.00533.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11118488" target="_blank">11118488</a><a href="/pmc/articles/PMC2270215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/27367160">Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang JQ,
|
||
Macdonald RL</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2016 Aug 1;73(8):1009-16.
|
||
doi: 10.1001/jamaneurol.2016.0449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27367160" target="_blank">27367160</a><a href="/pmc/articles/PMC5426359" 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/18625863">A novel locus for generalized epilepsy with febrile seizures plus in French families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baulac S,
|
||
Gourfinkel-An I,
|
||
Couarch P,
|
||
Depienne C,
|
||
Kaminska A,
|
||
Dulac O,
|
||
Baulac M,
|
||
LeGuern E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2008 Jul;65(7):943-51.
|
||
doi: 10.1001/archneur.65.7.943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18625863" target="_blank">18625863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9697698">Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wallace RH,
|
||
Wang DW,
|
||
Singh R,
|
||
Scheffer IE,
|
||
George AL Jr,
|
||
Phillips HA,
|
||
Saar K,
|
||
Reis A,
|
||
Johnson EW,
|
||
Sutherland GR,
|
||
Berkovic SF,
|
||
Mulley JC</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1998 Aug;19(4):366-70.
|
||
doi: 10.1038/1252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9697698" target="_blank">9697698</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203%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 (21)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1858674%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1858674%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203" 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=(generalized%20epilepsy%20with%20febrile%20seizures%20plus%203)%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://www.malacards.org/card/febrile_seizures_familial_8" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Generalized%20epilepsy%20with%20febrile%20seizures%20plus%203" 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></ul></div>
|
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=347692" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1858674[DISCUI]" ref="log$=recordlinks">GTR</a>
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