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<meta name="keywords" content="C4693694, disease or syndrome, epilepsy, familial focal, with variable foci 4, ffevf4, scn3a, 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="SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1644614
|
||
ConceptID=C4693694
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK570882/bin/scn3a-ndd-Image001.gif" src-large="/books/NBK570882/bin/scn3a-ndd-Image001.jpg" /></a><br /><a href="/books/NBK570882/figure/scn3a-ndd.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK570882/bin/scn3a-ndd-Image002.gif" src-large="/books/NBK570882/bin/scn3a-ndd-Image002.jpg" /></a><br /><a href="/books/NBK570882/figure/scn3a-ndd.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy, familial focal, with variable foci 4<span class="h1sub">(FFEVF4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644614</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:">C4693694</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>FFEVF4</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="SCN3A - ID: 6328 - NCBI Gene" href="/gene/6328" class="medgenPMinfo">SCN3A</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:0054776" target="_blank">MONDO:0054776</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617935" target="_blank">617935</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>
|
||
<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/NBK570882" target="_blank">SCN3A-Related Neurodevelopmental Disorder</a></div><div>SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE. [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/NBK570882#scn3a-ndd.Summary" target="NBK570882">Summary</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Diagnosis" target="NBK570882">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Clinical_Characteristics" target="NBK570882">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Genetically_Related_Allelic_Di" target="NBK570882">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Differential_Diagnosis" target="NBK570882">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Management" target="NBK570882">Management</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Genetic_Counseling" target="NBK570882">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Resources" target="NBK570882">Resources</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Molecular_Genetics" target="NBK570882">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.Chapter_Notes" target="NBK570882">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK570882#scn3a-ndd.References" target="NBK570882">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Katherine L Helbig | Ethan M Goldberg <a href="/books/NBK570882" target="NBK570882" title="NCBI Bookshelf: SCN3A-Related Neurodevelopmental Disorder">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 />Familial focal epilepsy with variable foci-4 (FFEVF4) is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014).
|
||
For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364). <a target="_blank" href="http://www.omim.org/entry/617935">http://www.omim.org/entry/617935</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_507499"><div><strong>Intellectual disability, borderline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>507499</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.">C0006009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/507499">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20borderline%22%5BClinical%20Features%5D%20OR%20507499%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8511"><div><strong>Abnormal autonomic nervous system physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8511</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.">C0013363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional abnormality of the autonomic nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8511">Feature record</a> | <a href="/medgen?term=%22Abnormal%20autonomic%20nervous%20system%20physiology%22%5BClinical%20Features%5D%20OR%208511%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101773"><div><strong>Simple febrile seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101773</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.">C0149886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101773">Feature record</a> | <a href="/medgen?term=%22Simple%20febrile%20seizure%22%5BClinical%20Features%5D%20OR%20101773%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66708"><div><strong>Clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66708</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.">C0234535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66708">Feature record</a> | <a href="/medgen?term=%22Clonic%20seizure%22%5BClinical%20Features%5D%20OR%2066708%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_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%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_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_199670"><div><strong>Focal-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199670</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.">C0751495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199670">Feature record</a> | <a href="/medgen?term=%22Focal-onset%20seizure%22%5BClinical%20Features%5D%20OR%20199670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343376"><div><strong>Small face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343376</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.">C1855538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A face that is short and narrow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343376">Feature record</a> | <a href="/medgen?term=%22Small%20face%22%5BClinical%20Features%5D%20OR%20343376%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small face</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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_8511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal autonomic nervous system physiology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</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_66708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</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_199670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal-onset 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_507499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, borderline</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simple febrile 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">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23702456">Spatiotemporal profiles of focal and generalised spikes in childhood absence epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kokkinos V,
|
||
Koupparis AM,
|
||
Tsiptsios D,
|
||
Kostopoulos GK,
|
||
Koutroumanidis M</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2013 Mar;15(1):14-26.
|
||
doi: 10.1684/epd.2013.0561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23702456" target="_blank">23702456</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23542701">Mutations of DEPDC5 cause autosomal dominant focal epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ishida S,
|
||
Picard F,
|
||
Rudolf G,
|
||
Noé E,
|
||
Achaz G,
|
||
Thomas P,
|
||
Genton P,
|
||
Mundwiller E,
|
||
Wolff M,
|
||
Marescaux C,
|
||
Miles R,
|
||
Baulac M,
|
||
Hirsch E,
|
||
Leguern E,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2013 May;45(5):552-5.
|
||
Epub 2013 Mar 31
|
||
doi: 10.1038/ng.2601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23542701" target="_blank">23542701</a><a href="/pmc/articles/PMC5010101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831360">Temporal lobe epilepsy surgery failures: predictors of seizure recurrence, yield of reevaluation, and outcome following reoperation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jehi LE,
|
||
Silveira DC,
|
||
Bingaman W,
|
||
Najm I</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2010 Dec;113(6):1186-94.
|
||
Epub 2010 Sep 10
|
||
doi: 10.3171/2010.8.JNS10180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831360" target="_blank">20831360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%204%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24283814">A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin C,
|
||
Meloche C,
|
||
Rioux MF,
|
||
Nguyen DK,
|
||
Carmant L,
|
||
Andermann E,
|
||
Gravel M,
|
||
Cossette P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Dec;86(6):570-4.
|
||
Epub 2013 Nov 27
|
||
doi: 10.1111/cge.12311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24283814" target="_blank">24283814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23542701">Mutations of DEPDC5 cause autosomal dominant focal epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ishida S,
|
||
Picard F,
|
||
Rudolf G,
|
||
Noé E,
|
||
Achaz G,
|
||
Thomas P,
|
||
Genton P,
|
||
Mundwiller E,
|
||
Wolff M,
|
||
Marescaux C,
|
||
Miles R,
|
||
Baulac M,
|
||
Hirsch E,
|
||
Leguern E,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2013 May;45(5):552-5.
|
||
Epub 2013 Mar 31
|
||
doi: 10.1038/ng.2601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23542701" target="_blank">23542701</a><a href="/pmc/articles/PMC5010101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9339675">Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayman M,
|
||
Scheffer IE,
|
||
Chinvarun Y,
|
||
Berlangieri SU,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1997 Oct;49(4):969-75.
|
||
doi: 10.1212/wnl.49.4.969.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9339675" target="_blank">9339675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6850279">Visual receptive fields and response properties of neurons in human temporal lobe and visual pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson CL,
|
||
Babb TL,
|
||
Halgren E,
|
||
Crandall PH</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1983 Jun;106 (Pt 2):473-502.
|
||
doi: 10.1093/brain/106.2.473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6850279" target="_blank">6850279</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%204%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37491868">Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dainelli A,
|
||
Iacomino M,
|
||
Rossato S,
|
||
Bugin S,
|
||
Traverso M,
|
||
Severino M,
|
||
Gustincich S,
|
||
Capra V,
|
||
Di Duca M,
|
||
Zara F,
|
||
Scala M,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1314-1330.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1002/epi4.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37491868" target="_blank">37491868</a><a href="/pmc/articles/PMC10690669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24283814">A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin C,
|
||
Meloche C,
|
||
Rioux MF,
|
||
Nguyen DK,
|
||
Carmant L,
|
||
Andermann E,
|
||
Gravel M,
|
||
Cossette P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Dec;86(6):570-4.
|
||
Epub 2013 Nov 27
|
||
doi: 10.1111/cge.12311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24283814" target="_blank">24283814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831360">Temporal lobe epilepsy surgery failures: predictors of seizure recurrence, yield of reevaluation, and outcome following reoperation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jehi LE,
|
||
Silveira DC,
|
||
Bingaman W,
|
||
Najm I</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2010 Dec;113(6):1186-94.
|
||
Epub 2010 Sep 10
|
||
doi: 10.3171/2010.8.JNS10180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831360" target="_blank">20831360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%204%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37491868">Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dainelli A,
|
||
Iacomino M,
|
||
Rossato S,
|
||
Bugin S,
|
||
Traverso M,
|
||
Severino M,
|
||
Gustincich S,
|
||
Capra V,
|
||
Di Duca M,
|
||
Zara F,
|
||
Scala M,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1314-1330.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1002/epi4.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37491868" target="_blank">37491868</a><a href="/pmc/articles/PMC10690669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37099548">The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Yu P,
|
||
Zhu G,
|
||
Wu X,
|
||
Ding D,
|
||
Hong Z</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(4):e0284924.
|
||
Epub 2023 Apr 26
|
||
doi: 10.1371/journal.pone.0284924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37099548" target="_blank">37099548</a><a href="/pmc/articles/PMC10132533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24283814">A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin C,
|
||
Meloche C,
|
||
Rioux MF,
|
||
Nguyen DK,
|
||
Carmant L,
|
||
Andermann E,
|
||
Gravel M,
|
||
Cossette P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Dec;86(6):570-4.
|
||
Epub 2013 Nov 27
|
||
doi: 10.1111/cge.12311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24283814" target="_blank">24283814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831360">Temporal lobe epilepsy surgery failures: predictors of seizure recurrence, yield of reevaluation, and outcome following reoperation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jehi LE,
|
||
Silveira DC,
|
||
Bingaman W,
|
||
Najm I</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2010 Dec;113(6):1186-94.
|
||
Epub 2010 Sep 10
|
||
doi: 10.3171/2010.8.JNS10180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831360" target="_blank">20831360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20focal%2C%20with%20variable%20foci%204%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 (4)</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=C4693694%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693694%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693694%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693694%5bDISCUI%5d" target="_blank">See all (9)</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=617935" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epilepsy,%20familial%20focal,%20with%20variable%20foci%204" 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=182391" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6328[geneid]" target="_blank">View SCN3A variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617935" 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="https://www.malacards.org/card/epilepsy_familial_focal_with_variable_foci_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epilepsy,%20familial%20focal,%20with%20variable%20foci%204" target="_blank">MedlinePlus</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/34081427" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Epilepsy,%20familial%20focal,%20with%20variable%20foci%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Epilepsy,%20familial%20focal,%20with%20variable%20foci%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" 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=1644614" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1644614" ref="log$=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=C4693694[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4693694[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1644614" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1644614" ref="log$=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=1644614" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1644614" ref="log$=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_bookshelf_cited&from_uid=1644614" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1644614" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1644614" 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>
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||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
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<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">
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||
Turn Off
|
||
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|
||
<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">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc37bab15b832ebc3bdb8c">Epilepsy, familial focal, with variable foci 4</a>
|
||
<div class="ralinkpop offscreen_noflow">Epilepsy, familial focal, with variable foci 4<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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</li>
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||
<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc37b984f3725e59804556">C4693694[conceptid] <span class="number">(1)</span></a>
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||
<div class="tertiary">MedGen</div>
|
||
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||
<li class="ra_qry ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc37b8b15b832ebc3bd059">C4310709[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(1)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C4310709[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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||
<div class="tertiary">ClinVar</div>
|
||
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||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc37b7f4a390645e84a238">C4748080[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(2)</span></a>
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||
<div class="ralinkpop offscreen_noflow">C4748080[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc37b784f3725e59804170">C4551983[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(27)</span></a>
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||
<div class="ralinkpop offscreen_noflow">C4551983[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
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|
||
<p class="HTOn">Your browsing activity is empty.</p>
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<p class="HTOff">Activity recording is turned off.</p>
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||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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||
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|
||
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