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<meta name="keywords" content="C0751122, dee6a, developmental and epileptic encephalopathy 6a, disease or syndrome, dravet, dravet syndrome, dravet syndromes, drvt, ds, early infantile epileptic encephalopathy 6, eiee6, epilepsy, myoclonic, infantile, severe, epileptic encephalopathy, early infantile, 6, epileptic encephalopathy, early infantile, 6 (dravet syndrome), infantile severe myoclonic epilepsy, myoclonic epilepsy, infantile, severe, myoclonic epilepsy, severe infantile, myoclonic epilepsy, severe, of infancy, scn1a, severe infantile myoclonic epilepsy, severe myoclonic epilepsy in infancy, severe myoclonic epilepsy of infancy, severe myoclonic epilepsy, infantile, severe myoclonus epilepsy of infancy, sme, smeb, smei, 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=148243
|
||
ConceptID=C0751122
|
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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">Severe myoclonic epilepsy in infancy<span class="h1sub">(DRVT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148243</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.">C0751122</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>DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; Dravet syndrome; DRVT; Epilepsy, Myoclonic, Infantile, Severe; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); SEVERE MYOCLONIC EPILEPSY OF INFANCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Severe myoclonic epilepsy in infancy (230437002); Dravet Syndrome (230437002)</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><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="SCN1A - ID: 6323 - NCBI Gene" href="/gene/6323" class="medgenPMinfo">SCN1A</a> (2q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100135" target="_blank">MONDO:0100135</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607208" target="_blank">607208</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=33069">ORPHA33069</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>
|
||
<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>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 OMIM</strong><br />Dravet syndrome, first described by Dravet (1978), is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by Dravet et al., 1992; Sugawara et al., 2002; Harkin et al., 2007; Shbarou and Mikati, 2016). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by Ohmori et al., 2002; Carranza Rojo et al., 2011; Dravet et al., 2011).
|
||
Although most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by Steel et al., 2017).
|
||
For a discussion of genetic heterogeneity of DEE, see 308350. <a target="_blank" href="http://www.omim.org/entry/607208">http://www.omim.org/entry/607208</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</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.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68582"><div><strong>Abnormal pyramidal sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68582</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.">C0234132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Functional neurological abnormalities related to dysfunction of the pyramidal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68582">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pyramidal%20sign%22%5BClinical%20Features%5D%20OR%2068582%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65895"><div><strong>Focal aware seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65895</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.">C0234974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65895">Feature record</a> | <a href="/medgen?term=%22Focal%20aware%20seizure%22%5BClinical%20Features%5D%20OR%2065895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_543022"><div><strong>Focal impaired awareness seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543022</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.">C0270834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543022">Feature record</a> | <a href="/medgen?term=%22Focal%20impaired%20awareness%20seizure%22%5BClinical%20Features%5D%20OR%20543022%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_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</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.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335477"><div><strong>Focal hemiclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335477</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.">C1846620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335477">Feature record</a> | <a href="/medgen?term=%22Focal%20hemiclonic%20seizure%22%5BClinical%20Features%5D%20OR%20335477%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1720648"><div><strong>Visually-induced seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720648</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.">C2080645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720648">Feature record</a> | <a href="/medgen?term=%22Visually-induced%20seizure%22%5BClinical%20Features%5D%20OR%201720648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869081"><div><strong>Generalized clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869081</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.">C4023499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869081">Feature record</a> | <a href="/medgen?term=%22Generalized%20clonic%20seizure%22%5BClinical%20Features%5D%20OR%20869081%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</a></span></li></ul></li><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_68582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pyramidal sign</a></span></li><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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal aware seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal hemiclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_543022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal impaired awareness seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869081" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1720648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visually-induced seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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=C0751122[DISCUI]&test_type=Clinical" ref="ncbi_uid=148243">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=148243" target="_blank" href="/omim/182389">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1318/" ref="ncbi_uid=148243">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=148243" ref="ncbi_uid=148243">V</a></span></span><span class="TLline">Severe myoclonic epilepsy in infancy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842768" ref="tree=MeSH" title="MedGen record for Channelopathy with epilepsy">Channelopathy with epilepsy</a></span><ul><li><span class="matched_ds">Severe myoclonic epilepsy in infancy</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/33275464">Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miziak B,
|
||
Czuczwar S</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Drug Discov</span>
|
||
2021 May;16(5):579-593.
|
||
Epub 2020 Dec 17
|
||
doi: 10.1080/17460441.2021.1857722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275464" target="_blank">33275464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24254932">Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brigo F,
|
||
Storti M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Nov 19;(11):CD010483.
|
||
doi: 10.1002/14651858.CD010483.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24254932" target="_blank">24254932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19481907">Comment to: addition of verapamil in the treatment of severe myoclonic epilepsy in infancy (Iannetti et al.).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2009 Sep;86(1):97-8.
|
||
Epub 2009 May 29
|
||
doi: 10.1016/j.eplepsyres.2009.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19481907" target="_blank">19481907</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22severe%20myoclonic%20epilepsy%20in%20infancy%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 (8)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_Dravet.pdf" target="_blank">Orphanet, Dravet syndrome, 2008</a></h3>
|
||
</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28880996">Dravet syndrome and its mimics: Beyond SCN1A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steel D,
|
||
Symonds JD,
|
||
Zuberi SM,
|
||
Brunklaus A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2017 Nov;58(11):1807-1816.
|
||
Epub 2017 Sep 7
|
||
doi: 10.1111/epi.13889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28880996" target="_blank">28880996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/29764460">Benign and severe early-life seizures: a round in the first year of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
|
||
Corsello G,
|
||
Ruggieri M,
|
||
Marino S,
|
||
Marino S,
|
||
Falsaperla R</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2018 May 15;44(1):54.
|
||
doi: 10.1186/s13052-018-0491-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29764460" target="_blank">29764460</a><a href="/pmc/articles/PMC5952424" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16022579">Stiripentol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiron C</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
|
||
2005 Jul;14(7):905-11.
|
||
doi: 10.1517/13543784.14.7.905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16022579" target="_blank">16022579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15508916">Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oguni H,
|
||
Hayashi K,
|
||
Osawa M,
|
||
Awaya Y,
|
||
Fukuyama Y,
|
||
Fukuma G,
|
||
Hirose S,
|
||
Mitsudome A,
|
||
Kaneko S</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
2005;95:103-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15508916" target="_blank">15508916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1762234">Severe myoclonic epilepsy in infancy: a long-term follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohtsuka Y,
|
||
Maniwa S,
|
||
Ogino T,
|
||
Yamatogi Y,
|
||
Ohtahara S</span><br />
|
||
<span class="medgenPMjournal">Jpn J Psychiatry Neurol</span>
|
||
1991 Jun;45(2):416-8.
|
||
doi: 10.1111/j.1440-1819.1991.tb02506.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1762234" target="_blank">1762234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3149365">An investigation on the borderland of severe myoclonic epilepsy in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogino T,
|
||
Ohtsuka Y,
|
||
Amano R,
|
||
Yamatogi Y,
|
||
Ohtahara S</span><br />
|
||
<span class="medgenPMjournal">Jpn J Psychiatry Neurol</span>
|
||
1988 Sep;42(3):554-5.
|
||
doi: 10.1111/j.1440-1819.1988.tb01353.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3149365" target="_blank">3149365</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20myoclonic%20epilepsy%20in%20infancy%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 (50)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622210">Dravet syndrome (severe myoclonic epilepsy in infancy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dravet C,
|
||
Oguni H</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:627-33.
|
||
doi: 10.1016/B978-0-444-52891-9.00065-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622210" target="_blank">23622210</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21463271">Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dravet C,
|
||
Bureau M,
|
||
Dalla Bernardina B,
|
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2011 Apr;52 Suppl 2:1-2.
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|
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<span class="bold">PMID: </span><a href="/pubmed/21463271" target="_blank">21463271</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/15508915">Severe myoclonic epilepsy in infancy: Dravet syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dravet C,
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Bureau M,
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Oguni H,
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<div class="portlet_content ln"><span class="medgenPMauthor">Dulac O</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/1762234">Severe myoclonic epilepsy in infancy: a long-term follow-up study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ohtsuka Y,
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Maniwa S,
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Ogino T,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20myoclonic%20epilepsy%20in%20infancy%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/24254932">Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brigo F,
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Storti M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/24254932" target="_blank">24254932</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18028411">Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kassaï B,
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Chiron C,
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Augier S,
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Cucherat M,
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Rey E,
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Gueyffier F,
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Guerrini R,
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Vincent J,
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Dulac O,
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Pons G</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2008 Feb;49(2):343-8.
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Epub 2007 Nov 19
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doi: 10.1111/j.1528-1167.2007.01423.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18028411" target="_blank">18028411</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17199026">Stiripentol.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chiron C</span><br />
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<span class="medgenPMjournal">Neurotherapeutics</span>
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2007 Jan;4(1):123-5.
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doi: 10.1016/j.nurt.2006.10.001.
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<span class="bold">PMID: </span><a href="/pubmed/17199026" target="_blank">17199026</a><a href="/pmc/articles/PMC7479694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/16022579">Stiripentol.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chiron C</span><br />
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<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
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2005 Jul;14(7):905-11.
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doi: 10.1517/13543784.14.7.905.
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<span class="bold">PMID: </span><a href="/pubmed/16022579" target="_blank">16022579</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/11520318">Epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulac O</span><br />
|
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<span class="medgenPMjournal">Epilepsia</span>
|
||
2001;42 Suppl 3:23-6.
|
||
doi: 10.1046/j.1528-1157.2001.042suppl.3023.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11520318" target="_blank">11520318</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20myoclonic%20epilepsy%20in%20infancy%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 (31)</a></div><h3 class="subhead">Prognosis</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/29764460">Benign and severe early-life seizures: a round in the first year of life.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
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Corsello G,
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Ruggieri M,
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Marino S,
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Marino S,
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Falsaperla R</span><br />
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<span class="medgenPMjournal">Ital J Pediatr</span>
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2018 May 15;44(1):54.
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doi: 10.1186/s13052-018-0491-z.
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<span class="bold">PMID: </span><a href="/pubmed/29764460" target="_blank">29764460</a><a href="/pmc/articles/PMC5952424" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18028411">Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassaï B,
|
||
Chiron C,
|
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Augier S,
|
||
Cucherat M,
|
||
Rey E,
|
||
Gueyffier F,
|
||
Guerrini R,
|
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Vincent J,
|
||
Dulac O,
|
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Pons G</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2008 Feb;49(2):343-8.
|
||
Epub 2007 Nov 19
|
||
doi: 10.1111/j.1528-1167.2007.01423.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18028411" target="_blank">18028411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15508915">Severe myoclonic epilepsy in infancy: Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dravet C,
|
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Bureau M,
|
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Oguni H,
|
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Fukuyama Y,
|
||
Cokar O</span><br />
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||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
2005;95:71-102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15508915" target="_blank">15508915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1762234">Severe myoclonic epilepsy in infancy: a long-term follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohtsuka Y,
|
||
Maniwa S,
|
||
Ogino T,
|
||
Yamatogi Y,
|
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Ohtahara S</span><br />
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<span class="medgenPMjournal">Jpn J Psychiatry Neurol</span>
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1991 Jun;45(2):416-8.
|
||
doi: 10.1111/j.1440-1819.1991.tb02506.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1762234" target="_blank">1762234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3149365">An investigation on the borderland of severe myoclonic epilepsy in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogino T,
|
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Ohtsuka Y,
|
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Amano R,
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Yamatogi Y,
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Ohtahara S</span><br />
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1988 Sep;42(3):554-5.
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doi: 10.1111/j.1440-1819.1988.tb01353.x.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20myoclonic%20epilepsy%20in%20infancy%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/33646591">Deconstructing Dravet syndrome neurocognitive development: A scoping review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bertuccelli M,
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Verheyen K,
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Hallemans A,
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Sander JW,
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Ragona F,
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Bisiacchi P,
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Masiero S,
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Del Felice A</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2021 Apr;62(4):874-887.
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Epub 2021 Mar 1
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doi: 10.1111/epi.16844.
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<span class="bold">PMID: </span><a href="/pubmed/33646591" target="_blank">33646591</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/21463272">The core Dravet syndrome phenotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dravet C</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2011 Apr;52 Suppl 2:3-9.
|
||
doi: 10.1111/j.1528-1167.2011.02994.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21463272" target="_blank">21463272</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/19469841">Clinical spectrum of SCN1A mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gambardella A,
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Marini C</span><br />
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2009 May;50 Suppl 5:20-3.
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doi: 10.1111/j.1528-1167.2009.02115.x.
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<span class="bold">PMID: </span><a href="/pubmed/19469841" target="_blank">19469841</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/19203854">Molecular basis of severe myoclonic epilepsy in infancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yamakawa K</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
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2009 May;31(5):401-4.
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Epub 2009 Feb 8
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doi: 10.1016/j.braindev.2008.11.015.
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||
<span class="bold">PMID: </span><a href="/pubmed/19203854" target="_blank">19203854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15207799">Fever, genes, and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baulac S,
|
||
Gourfinkel-An I,
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Nabbout R,
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Huberfeld G,
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Serratosa J,
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Leguern E,
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Baulac M</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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2004 Jul;3(7):421-30.
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||
doi: 10.1016/S1474-4422(04)00808-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15207799" target="_blank">15207799</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20myoclonic%20epilepsy%20in%20infancy%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 (24)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33937968">Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampazzo ACM,
|
||
Dos Santos RRP,
|
||
Maluf FA,
|
||
Simm RF,
|
||
Marson FAL,
|
||
Ortega MM,
|
||
de Aguiar PHP</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2021 May;22(2):105-115.
|
||
Epub 2021 May 3
|
||
doi: 10.1007/s10048-021-00644-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33937968" target="_blank">33937968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24254932">Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brigo F,
|
||
Storti M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Nov 19;(11):CD010483.
|
||
doi: 10.1002/14651858.CD010483.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24254932" target="_blank">24254932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18028411">Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassaï B,
|
||
Chiron C,
|
||
Augier S,
|
||
Cucherat M,
|
||
Rey E,
|
||
Gueyffier F,
|
||
Guerrini R,
|
||
Vincent J,
|
||
Dulac O,
|
||
Pons G</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Feb;49(2):343-8.
|
||
Epub 2007 Nov 19
|
||
doi: 10.1111/j.1528-1167.2007.01423.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18028411" target="_blank">18028411</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20myoclonic%20epilepsy%20in%20infancy%22%20AND%20systematic%5Bsb%5D%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">
|
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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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</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=C0751122%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (62)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751122%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751122%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751122%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751122%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (89)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751122%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (12)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751122%5bDISCUI%5d" target="_blank">See all (103)</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=607208" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=33069" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Severe%20myoclonic%20epilepsy%20in%20infancy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22severe%20myoclonic%20epilepsy%20in%20infancy%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Severe%20myoclonic%20epilepsy%20in%20infancy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_Dravet.pdf">Orphanet, 2008</a><div>Orphanet, Dravet syndrome, 2008</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=182389" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6323[geneid]" target="_blank">View SCN1A variations in ClinVar</a></li><li><a href="/nuccore/227330591" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=607208" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/dravet_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Severe%20myoclonic%20epilepsy%20in%20infancy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10430/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301494" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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<a href="/pubmed/clinical?term=Severe%20myoclonic%20epilepsy%20in%20infancy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=148243" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=148243" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d53ed8cde49f3df772e257">Severe myoclonic epilepsy in infancy</a>
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<div class="ralinkpop offscreen_noflow">Severe myoclonic epilepsy in infancy<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d53ed567c23b31e047f5af">Febrile seizures, familial, 3a</a>
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<div class="ralinkpop offscreen_noflow">Febrile seizures, familial, 3a<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d53ed02f30673f7b8ce8fe">SCN1A Seizure Disorders - GeneReviews®</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d53ece2f30673f7b8ce13c">Table B. [OMIM Entries for SCN1A-Related Seizure Disorders (View All in OMIM)]. ...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for SCN1A-Related Seizure Disorders (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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