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<meta name="keywords" content="C1835905, autosomal dominant nocturnal frontal lobe epilepsy 4, autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in chrna2, autosomal dominant nocturnal frontal lobe epilepsy type 4, chrna2, chrna2 autosomal dominant nocturnal frontal lobe epilepsy, chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant, convulsions, benign familial infantile, 6, disease or syndrome, enfl4, epilepsy, familial, with nocturnal wandering and ictal fear, epilepsy, nocturnal frontal lobe, 4, epilepsy, nocturnal frontal lobe, type 4, nocturnal frontal lobe epilepsy 4, seizures, benign familial infantile, 6, 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="Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is a seizure disorder characterized by clusters of nocturnal motor seizures that are often stereotyped and brief (<2 minutes). They vary from simple arousals from sleep to dramatic, often hyperkinetic events with tonic or dystonic features. Affected individuals may experience an aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Age of onset ranges from infancy to adulthood. About 80% of individuals develop ADSHE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidities, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADSHE is lifelong but not progressive. As an individual reaches middle age, seizures may become milder and less frequent." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=332082
|
||
ConceptID=C1835905
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant nocturnal frontal lobe epilepsy 4<span class="h1sub">(ENFL4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332082</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:">C1835905</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant; EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR; Epilepsy, nocturnal frontal lobe, type 4</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="CHRNA2 - ID: 1135 - NCBI Gene" href="/gene/1135" class="medgenPMinfo">CHRNA2</a> (8p21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012474" target="_blank">MONDO:0012474</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610353" target="_blank">610353</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">
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<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/NBK1169" target="_blank">Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</a></div><div>Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is a seizure disorder characterized by clusters of nocturnal motor seizures that are often stereotyped and brief (<2 minutes). They vary from simple arousals from sleep to dramatic, often hyperkinetic events with tonic or dystonic features. Affected individuals may experience an aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Age of onset ranges from infancy to adulthood. About 80% of individuals develop ADSHE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidities, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADSHE is lifelong but not progressive. As an individual reaches middle age, seizures may become milder and less frequent. [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/NBK1169#adnfle.Summary" target="NBK1169">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Diagnosis" target="NBK1169">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Clinical_Characteristics" target="NBK1169">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Genetically_Related_Allelic_Disor" target="NBK1169">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Differential_Diagnosis" target="NBK1169">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Management" target="NBK1169">Management</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Genetic_Counseling" target="NBK1169">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Resources" target="NBK1169">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Molecular_Genetics" target="NBK1169">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.Chapter_Notes" target="NBK1169">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1169#adnfle.References" target="NBK1169">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Hirokazu Kurahashi | Shinichi Hirose <a href="/books/NBK1169" target="NBK1169" title="NCBI Bookshelf: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy">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_descriptions">Additional descriptions</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 />Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) (Trivisano et al., 2015).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (600513).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). <a target="_blank" href="http://www.omim.org/entry/610353">http://www.omim.org/entry/610353</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.<br /><br />Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.<br /><br />The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication.<br /><br />The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks.<br /><br />In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers. <a target="_blank" href="https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy">https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy</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_48649"><div><strong>Shivering</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48649</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.">C0036973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary contraction or twitching of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48649">Feature record</a> | <a href="/medgen?term=%22Shivering%22%5BClinical%20Features%5D%20OR%2048649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14048"><div><strong>Atypical behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14048</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.">C0004941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14048">Feature record</a> | <a href="/medgen?term=%22Atypical%20behavior%22%5BClinical%20Features%5D%20OR%2014048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3587"><div><strong>Confusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3587</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.">C0009676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of clarity and coherence of thought, perception, understanding, or action.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3587">Feature record</a> | <a href="/medgen?term=%22Confusion%22%5BClinical%20Features%5D%20OR%203587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_581539"><div><strong>Nocturnal seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>581539</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.">C0393719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seizures that occur while the affected individual is sleeping.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/581539">Feature record</a> | <a href="/medgen?term=%22Nocturnal%20seizures%22%5BClinical%20Features%5D%20OR%20581539%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868343"><div><strong>Neurodevelopmental abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868343</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.">C4022737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868343">Feature record</a> | <a href="/medgen?term=%22Neurodevelopmental%20abnormality%22%5BClinical%20Features%5D%20OR%20868343%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 nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Confusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_581539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nocturnal seizures</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shivering</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3696898[DISCUI]&test_type=Clinical" ref="ncbi_uid=777188">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1169/" ref="ncbi_uid=777188">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=777188" ref="ncbi_uid=777188">V</a></span></span><span class="TLline"><a href="/medgen/777188" ref="tree=GTR&ncbi_uid=777188&link_uid=777188" title="View MedGen record for 'Autosomal dominant nocturnal frontal lobe epilepsy'">Autosomal dominant nocturnal frontal lobe epilepsy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838049[DISCUI]&test_type=Clinical" ref="ncbi_uid=324932">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324932" target="_blank" href="/omim/118504">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1169/" ref="ncbi_uid=324932">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324932" ref="ncbi_uid=324932">V</a></span></span><span class="TLline"><a href="/medgen/324932" ref="tree=GTR&ncbi_uid=324932&link_uid=324932" title="View MedGen record for 'Autosomal dominant nocturnal frontal lobe epilepsy 1'">Autosomal dominant nocturnal frontal lobe epilepsy 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864125[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=351053">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351053" target="_blank" href="/omim/603204">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1169/" ref="ncbi_uid=351053">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/351053" ref="tree=GTR&ncbi_uid=351053&link_uid=351053" title="View MedGen record for 'Autosomal dominant nocturnal frontal lobe epilepsy 2'">Autosomal dominant nocturnal frontal lobe epilepsy 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854335[DISCUI]&test_type=Clinical" ref="ncbi_uid=344263">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344263" target="_blank" href="/omim/118507">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1169/" ref="ncbi_uid=344263">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344263" ref="ncbi_uid=344263">V</a></span></span><span class="TLline"><a href="/medgen/344263" ref="tree=GTR&ncbi_uid=344263&link_uid=344263" title="View MedGen record for 'Autosomal dominant nocturnal frontal lobe epilepsy 3'">Autosomal dominant nocturnal frontal lobe epilepsy 3</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835905[DISCUI]&test_type=Clinical" ref="ncbi_uid=332082">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332082" target="_blank" href="/omim/118502">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1169/" ref="ncbi_uid=332082">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332082" ref="ncbi_uid=332082">V</a></span></span><span class="TLline">Autosomal dominant nocturnal frontal lobe epilepsy 4</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554306[DISCUI]&test_type=Clinical" ref="ncbi_uid=767220">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767220" target="_blank" href="/omim/608167">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1169%20OR%20NBK525917)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=767220">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767220" ref="ncbi_uid=767220">V</a></span></span><span class="TLline"><a href="/medgen/767220" ref="tree=GTR&ncbi_uid=767220&link_uid=767220" title="View MedGen record for 'Autosomal dominant nocturnal frontal lobe epilepsy 5'">Autosomal dominant nocturnal frontal lobe epilepsy 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826100" ref="tree=MeSH" title="MedGen record for Familial partial epilepsy">Familial partial epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/777188" ref="tree=MeSH" title="MedGen record for Autosomal dominant nocturnal frontal lobe epilepsy">Autosomal dominant nocturnal frontal lobe epilepsy</a></span><ul><li><span class="matched_ds">Autosomal dominant nocturnal frontal lobe epilepsy 4</span></li></ul></li></ul></li></ul></div></div></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/33284031">Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fox J,
|
||
Thodeson DM,
|
||
Dolce AM</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2021 Apr;36(5):371-377.
|
||
Epub 2020 Dec 7
|
||
doi: 10.1177/0883073820974851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33284031" target="_blank">33284031</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/21496595">Paroxysmal choreodystonic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sohn YH,
|
||
Lee PH</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;100:367-73.
|
||
doi: 10.1016/B978-0-444-52014-2.00028-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496595" target="_blank">21496595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20189461">Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wood AG,
|
||
Saling MM,
|
||
Fedi M,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
Benjamin C,
|
||
Reutens DC</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2010 Apr;17(4):531-5.
|
||
Epub 2010 Feb 26
|
||
doi: 10.1016/j.yebeh.2010.01.168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20189461" target="_blank">20189461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12110613">Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortells MO,
|
||
Barrantes GE</span><br />
|
||
<span class="medgenPMjournal">Br J Pharmacol</span>
|
||
2002 Jul;136(6):883-95.
|
||
doi: 10.1038/sj.bjp.0704786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12110613" target="_blank">12110613</a><a href="/pmc/articles/PMC1573415" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17900292">Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Díaz-Otero F,
|
||
Quesada M,
|
||
Morales-Corraliza J,
|
||
Martínez-Parra C,
|
||
Gómez-Garre P,
|
||
Serratosa JM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Mar;49(3):516-20.
|
||
Epub 2007 Sep 26
|
||
doi: 10.1111/j.1528-1167.2007.01328.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17900292" target="_blank">17900292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16222669">Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Combi R,
|
||
Dalprà L,
|
||
Ferini-Strambi L,
|
||
Tenchini ML</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2005 Dec;58(6):899-904.
|
||
doi: 10.1002/ana.20660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16222669" target="_blank">16222669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10716662">Susceptibility genes in human epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leppert MF,
|
||
Singh N</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
1999;19(4):397-405.
|
||
doi: 10.1055/s-2008-1040854.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10716662" target="_blank">10716662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9549500">Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldani A,
|
||
Zucconi M,
|
||
Asselta R,
|
||
Modugno M,
|
||
Bonati MT,
|
||
Dalprà L,
|
||
Malcovati M,
|
||
Tenchini ML,
|
||
Smirne S,
|
||
Ferini-Strambi L</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1998 Feb;121 ( Pt 2):205-23.
|
||
doi: 10.1093/brain/121.2.205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9549500" target="_blank">9549500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9071484">Epilepsies with single gene inheritance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berkovic SF,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1997 Jan;19(1):13-8.
|
||
doi: 10.1016/s0387-7604(96)00060-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9071484" target="_blank">9071484</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%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 (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33284031">Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fox J,
|
||
Thodeson DM,
|
||
Dolce AM</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2021 Apr;36(5):371-377.
|
||
Epub 2020 Dec 7
|
||
doi: 10.1177/0883073820974851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33284031" target="_blank">33284031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30565327">Nicotine increases sleep spindle activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Reilly C,
|
||
Chapotot F,
|
||
Pittau F,
|
||
Mella N,
|
||
Picard F</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2019 Aug;28(4):e12800.
|
||
Epub 2018 Dec 18
|
||
doi: 10.1111/jsr.12800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30565327" target="_blank">30565327</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Qu J,
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Yang ZQ,
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Yin JY,
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He H,
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Li XP,
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Long HY,
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Lv N,
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Xiao B,
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Zhang Y,
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|
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<div class="nl"><a target="_blank" href="/pubmed/18456869">Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hoda JC,
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Gu W,
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Friedli M,
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Roberts R,
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Scheffer IE,
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Marini C,
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<span class="bold">PMID: </span><a href="/pubmed/18456869" target="_blank">18456869</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12769616">Nicotinic acetylcholine receptors and epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Steinlein OK</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%204%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/19822871">Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kurahashi H,
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Wang JW,
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Ishii A,
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Kojima T,
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Wakai S,
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Kizawa T,
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Fujimoto Y,
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Kikkawa K,
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Yoshimura K,
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Inoue T,
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Yasumoto S,
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Ogawa A,
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<div class="nl"><a target="_blank" href="/pubmed/12110613">Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ortells MO,
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Barrantes GE</span><br />
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2002 Jul;136(6):883-95.
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doi: 10.1038/sj.bjp.0704786.
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<span class="bold">PMID: </span><a href="/pubmed/12110613" target="_blank">12110613</a><a href="/pmc/articles/PMC1573415" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26140313">De novo KCNT1 mutations in early-onset epileptic encephalopathy.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohba C,
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Kato M,
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Takahashi N,
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Osaka H,
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Shiihara T,
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Tohyama J,
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Nabatame S,
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Azuma J,
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Fujii Y,
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Hara M,
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Tsurusawa R,
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Inoue T,
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Ogata R,
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Watanabe Y,
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Togashi N,
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Kodera H,
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Nakashima M,
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Tsurusaki Y,
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Miyake N,
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Tanaka F,
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Saitsu H,
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Matsumoto N</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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||
2015 Sep;56(9):e121-8.
|
||
Epub 2015 Jul 3
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doi: 10.1111/epi.13072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26140313" target="_blank">26140313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15329069">Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berkovic SF,
|
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Serratosa JM,
|
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Phillips HA,
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Xiong L,
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Andermann E,
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Díaz-Otero F,
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Gómez-Garre P,
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Martín M,
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Fernández-Bullido Y,
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Andermann F,
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Lopes-Cendes I,
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Dubeau F,
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Desbiens R,
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Scheffer IE,
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Wallace RH,
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Mulley JC,
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<span class="medgenPMjournal">Epilepsia</span>
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||
2004 Sep;45(9):1054-60.
|
||
doi: 10.1111/j.0013-9580.2004.30502.x.
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||
<span class="bold">PMID: </span><a href="/pubmed/15329069" target="_blank">15329069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10825362">Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Picard F,
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||
Baulac S,
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Kahane P,
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Hirsch E,
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Sebastianelli R,
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Thomas P,
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Vigevano F,
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Genton P,
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Guerrini R,
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Gericke CA,
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An I,
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Rudolf G,
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Herman A,
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Brice A,
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2000 Jun;123 ( Pt 6):1247-62.
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doi: 10.1093/brain/123.6.1247.
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<span class="bold">PMID: </span><a href="/pubmed/10825362" target="_blank">10825362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10448807">Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sáenz A,
|
||
Galán J,
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Caloustian C,
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Lorenzo F,
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Márquez C,
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Rodríguez N,
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Jiménez MD,
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Poza JJ,
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Cobo AM,
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1999 Aug;56(8):1004-9.
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<span class="bold">PMID: </span><a href="/pubmed/10448807" target="_blank">10448807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9758605">Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips HA,
|
||
Scheffer IE,
|
||
Crossland KM,
|
||
Bhatia KP,
|
||
Fish DR,
|
||
Marsden CD,
|
||
Howell SJ,
|
||
Stephenson JB,
|
||
Tolmie J,
|
||
Plazzi G,
|
||
Eeg-Olofsson O,
|
||
Singh R,
|
||
Lopes-Cendes I,
|
||
Andermann E,
|
||
Andermann F,
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||
Berkovic SF,
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Mulley JC</span><br />
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1998 Oct;63(4):1108-16.
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<span class="bold">PMID: </span><a href="/pubmed/9758605" target="_blank">9758605</a><a href="/pmc/articles/PMC1377480" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%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 (11)</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/33284031">Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fox J,
|
||
Thodeson DM,
|
||
Dolce AM</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2021 Apr;36(5):371-377.
|
||
Epub 2020 Dec 7
|
||
doi: 10.1177/0883073820974851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33284031" target="_blank">33284031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%204%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 (1)</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>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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||
<div class="portlet mgSection" id="ID_106">
|
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<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=C1835905%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835905%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835905%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835905%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1835905%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<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>
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||
<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=610353" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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=118502" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1135[geneid]" target="_blank">View CHRNA2 variations in ClinVar</a></li><li><a href="/nuccore/263191048" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610353" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Epilepsy%2C+nocturnal+frontal+lobe%2C+type+4/8333" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/epilepsy_nocturnal_frontal_lobe_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15481/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<div class="portlet_content">
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<ul>
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<li>
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<a href="/pubmed/20301348" 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=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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||
<a href="/pubmed?term=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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</li>
|
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|
||
</div>
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</div>
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|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=332082" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=332082" ref="log$=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=C1835905[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1835905[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=332082" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=332082" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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