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<meta name="keywords" content="C1858672, disease or syndrome, gefs+, type 1, gefs+1, gefs, type 1, gefsp1, generalized epilepsy with febrile seizures plus, type 1, scn1b, scn1b-related generalized 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="Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, 121210), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by Wallace et al., 1998 and Singh et al., 1999). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of GEFS+ GEFS+ is a genetically heterogeneous disorder. See also GEFS+2 (604403), caused by mutation in the SCN1A gene (182389) on chromosome 2q24; GEFS+3 (see 607681), caused by mutation in the GABRG2 gene (137164) on chromosome 5q34; GEFS+5 (613060), associated with variation in the GABRD (137163) gene on chromosome 1p36; GEFS+9 (616172), caused by mutation in the STX1B gene (601485) on chromosome 16p11; GEFS+10 (618482), caused by mutation in the HCN1 gene (602780) on chromosome 5p12; GEFS+11 (602477), caused by mutation in the HCN2 gene (602781) on chromosome 19p13; and GEFS+12 (620755), caused by mutation in the SLC32A1 gene (616440) on chromosome 20q11. Several putative loci have also been identified; see GEFS+4 (609800), mapped to chromosome 2p24; GEFS+6 (612279), mapped to chromosome 8p23-p21; GEFS+7 (613863), mapped to chromosome 2q24; and GEFS+8 (613828), mapped to chromosome 6q16.3-q22.31." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=348994
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ConceptID=C1858672
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Generalized epilepsy with febrile seizures plus, type 1<span class="h1sub">(GEFSP1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348994</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:">C1858672</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 1; GEFSP1; SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SCN1B - ID: 6324 - NCBI Gene" href="/gene/6324" class="medgenPMinfo">SCN1B</a> (19q13.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011416" target="_blank">MONDO:0011416</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604233" target="_blank">604233</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, 121210), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by Wallace et al., 1998 and Singh et al., 1999). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of GEFS+ GEFS+ is a genetically heterogeneous disorder. See also GEFS+2 (604403), caused by mutation in the SCN1A gene (182389) on chromosome 2q24; GEFS+3 (see 607681), caused by mutation in the GABRG2 gene (137164) on chromosome 5q34; GEFS+5 (613060), associated with variation in the GABRD (137163) gene on chromosome 1p36; GEFS+9 (616172), caused by mutation in the STX1B gene (601485) on chromosome 16p11; GEFS+10 (618482), caused by mutation in the HCN1 gene (602780) on chromosome 5p12; GEFS+11 (602477), caused by mutation in the HCN2 gene (602781) on chromosome 19p13; and GEFS+12 (620755), caused by mutation in the SLC32A1 gene (616440) on chromosome 20q11. Several putative loci have also been identified; see GEFS+4 (609800), mapped to chromosome 2p24; GEFS+6 (612279), mapped to chromosome 8p23-p21; GEFS+7 (613863), mapped to chromosome 2q24; and GEFS+8 (613828), mapped to chromosome 6q16.3-q22.31. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_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 />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>
|
||
</div>
|
||
|
||
<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>
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||
<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_78735"><div><strong>Atonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78735</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.">C0270846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78735">Feature record</a> | <a href="/medgen?term=%22Atonic%20seizure%22%5BClinical%20Features%5D%20OR%2078735%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_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_78735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
<div class="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">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31465153">Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darras N,
|
||
Ha TK,
|
||
Rego S,
|
||
Martin PM,
|
||
Barroso E,
|
||
Slavotinek AM,
|
||
Cilio MR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Nov;179(11):2190-2195.
|
||
Epub 2019 Aug 29
|
||
doi: 10.1002/ajmg.a.61344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31465153" target="_blank">31465153</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20epilepsy%20with%20febrile%20seizures%20plus%2C%20type%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31465153">Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darras N,
|
||
Ha TK,
|
||
Rego S,
|
||
Martin PM,
|
||
Barroso E,
|
||
Slavotinek AM,
|
||
Cilio MR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Nov;179(11):2190-2195.
|
||
Epub 2019 Aug 29
|
||
doi: 10.1002/ajmg.a.61344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31465153" target="_blank">31465153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12486163">Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meadows LS,
|
||
Malhotra J,
|
||
Loukas A,
|
||
Thyagarajan V,
|
||
Kazen-Gillespie KA,
|
||
Koopman MC,
|
||
Kriegler S,
|
||
Isom LL,
|
||
Ragsdale DS</span><br />
|
||
<span class="medgenPMjournal">J Neurosci</span>
|
||
2002 Dec 15;22(24):10699-709.
|
||
doi: 10.1523/JNEUROSCI.22-24-10699.2002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12486163" target="_blank">12486163</a><a href="/pmc/articles/PMC6758463" 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%2C%20type%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31465153">Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darras N,
|
||
Ha TK,
|
||
Rego S,
|
||
Martin PM,
|
||
Barroso E,
|
||
Slavotinek AM,
|
||
Cilio MR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Nov;179(11):2190-2195.
|
||
Epub 2019 Aug 29
|
||
doi: 10.1002/ajmg.a.61344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31465153" target="_blank">31465153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26361221">Exaggerated Nighttime Sleep and Defective Sleep Homeostasis in a Drosophila Knock-In Model of Human Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petruccelli E,
|
||
Lansdon P,
|
||
Kitamoto T</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(9):e0137758.
|
||
Epub 2015 Sep 11
|
||
doi: 10.1371/journal.pone.0137758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26361221" target="_blank">26361221</a><a href="/pmc/articles/PMC4567262" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12486163">Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meadows LS,
|
||
Malhotra J,
|
||
Loukas A,
|
||
Thyagarajan V,
|
||
Kazen-Gillespie KA,
|
||
Koopman MC,
|
||
Kriegler S,
|
||
Isom LL,
|
||
Ragsdale DS</span><br />
|
||
<span class="medgenPMjournal">J Neurosci</span>
|
||
2002 Dec 15;22(24):10699-709.
|
||
doi: 10.1523/JNEUROSCI.22-24-10699.2002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12486163" target="_blank">12486163</a><a href="/pmc/articles/PMC6758463" 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%2C%20type%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 (3)</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>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1858672%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858672%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858672%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (47)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858672%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1858672%5bDISCUI%5d" target="_blank">See all (53)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=604233" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Generalized%20epilepsy%20with%20febrile%20seizures%20plus,%20type%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600235" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6324[geneid]" target="_blank">View SCN1B variations in ClinVar</a></li><li><a href="/nuccore/262331556" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=604233" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Generalized+epilepsy+with+febrile+seizures+plus%2C+type+1/8459" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/generalized_epilepsy_with_febrile_seizures_plus_type_1" 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,%20type%201" 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/18659/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Generalized%20epilepsy%20with%20febrile%20seizures%20plus,%20type%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Generalized%20epilepsy%20with%20febrile%20seizures%20plus,%20type%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=348994" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=348994" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1858672[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1858672[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=348994" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=348994" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=348994" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=348994" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=348994" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=348994" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
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