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<meta name="keywords" content="C1838049, autosomal dominant nocturnal frontal lobe epilepsy 1, autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in chrna4, autosomal dominant nocturnal frontal lobe epilepsy type 1, chrna4, chrna4 autosomal dominant nocturnal frontal lobe epilepsy, chrna4-related nocturnal frontal lobe epilepsy, autosomal dominant, disease or syndrome, enfl1, epilepsy, nocturnal frontal lobe, 1, epilepsy, nocturnal frontal lobe, type 1, nocturnal frontal lobe epilepsy 1, 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=324932
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ConceptID=C1838049
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant nocturnal frontal lobe epilepsy 1<span class="h1sub">(ENFL1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324932</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.">C1838049</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>CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant; EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1</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="CHRNA4 - ID: 1137 - NCBI Gene" href="/gene/1137" class="medgenPMinfo">CHRNA4</a> (20q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010899" target="_blank">MONDO:0010899</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/600513" target="_blank">600513</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>
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||
<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>
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||
</div>
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||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_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 />Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al., 1994, 1995). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997).
|
||
Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy
|
||
Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (603204), which maps to chromosome 15q24; ENFL3 (605375), caused by mutation in the CHRNB2 gene (118507) on chromosome 1q21; ENFL4 (610353), caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21; and ENFL5 (615005), caused by mutation in the KCNT1 gene (608167) on chromosome 9q34.
|
||
Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; 604364), caused by mutation in the DEPDC5 gene (614191) on chromosome 22q12. <a target="_blank" href="http://www.omim.org/entry/600513">http://www.omim.org/entry/600513</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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.<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 />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 />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 />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. <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">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="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="matched_ds"><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">Autosomal dominant nocturnal frontal lobe epilepsy 1</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="TLclosed"><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"><a href="/medgen/332082" ref="tree=GTR&ncbi_uid=332082&link_uid=332082" title="View MedGen record for 'Autosomal dominant nocturnal frontal lobe epilepsy 4'">Autosomal dominant nocturnal frontal lobe epilepsy 4</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=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 1</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/25770198">Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conti V,
|
||
Aracri P,
|
||
Chiti L,
|
||
Brusco S,
|
||
Mari F,
|
||
Marini C,
|
||
Albanese M,
|
||
Marchi A,
|
||
Liguori C,
|
||
Placidi F,
|
||
Romigi A,
|
||
Becchetti A,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2015 Apr 14;84(15):1520-8.
|
||
Epub 2015 Mar 13
|
||
doi: 10.1212/WNL.0000000000001471.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770198" target="_blank">25770198</a><a href="/pmc/articles/PMC4408286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23246147">Tobacco habits in nocturnal frontal lobe epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naldi I,
|
||
Bisulli F,
|
||
Vignatelli L,
|
||
Licchetta L,
|
||
Pittau F,
|
||
Di Vito L,
|
||
Mostacci B,
|
||
Menghi V,
|
||
Provini F,
|
||
Montagna P,
|
||
Tinuper P</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2013 Jan;26(1):114-7.
|
||
Epub 2012 Dec 12
|
||
doi: 10.1016/j.yebeh.2012.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23246147" target="_blank">23246147</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/11579435">Ion channels and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lerche H,
|
||
Jurkat-Rott K,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Summer;106(2):146-59.
|
||
doi: 10.1002/ajmg.1582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11579435" target="_blank">11579435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10709813">The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zucconi M,
|
||
Oldani A,
|
||
Smirne S,
|
||
Ferini-Strambi L</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2000 Jan;17(1):77-86.
|
||
doi: 10.1097/00004691-200001000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10709813" target="_blank">10709813</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%201%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27336596">Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichols WA,
|
||
Henderson BJ,
|
||
Marotta CB,
|
||
Yu CY,
|
||
Richards C,
|
||
Dougherty DA,
|
||
Lester HA,
|
||
Cohen BN</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(6):e0158032.
|
||
Epub 2016 Jun 23
|
||
doi: 10.1371/journal.pone.0158032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27336596" target="_blank">27336596</a><a href="/pmc/articles/PMC4918917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25770198">Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conti V,
|
||
Aracri P,
|
||
Chiti L,
|
||
Brusco S,
|
||
Mari F,
|
||
Marini C,
|
||
Albanese M,
|
||
Marchi A,
|
||
Liguori C,
|
||
Placidi F,
|
||
Romigi A,
|
||
Becchetti A,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2015 Apr 14;84(15):1520-8.
|
||
Epub 2015 Mar 13
|
||
doi: 10.1212/WNL.0000000000001471.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770198" target="_blank">25770198</a><a href="/pmc/articles/PMC4408286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19298753">Genes associated with idiopathic epilepsies: a current overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Neurol Res</span>
|
||
2009 Mar;31(2):135-43.
|
||
doi: 10.1179/174313209X393942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19298753" target="_blank">19298753</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%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196578">Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mullen SA,
|
||
Carney PW,
|
||
Roten A,
|
||
Ching M,
|
||
Lightfoot PA,
|
||
Churilov L,
|
||
Nair U,
|
||
Li M,
|
||
Berkovic SF,
|
||
Petrou S,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jan 2;90(1):e67-e72.
|
||
Epub 2017 Dec 1
|
||
doi: 10.1212/WNL.0000000000004769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196578" target="_blank">29196578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19087113">Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delgado-Escueta AV,
|
||
Bourgeois BF</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Dec;49 Suppl 9:13-24.
|
||
doi: 10.1111/j.1528-1167.2008.01922.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19087113" target="_blank">19087113</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoda JC,
|
||
Gu W,
|
||
Friedli M,
|
||
Phillips HA,
|
||
Bertrand S,
|
||
Antonarakis SE,
|
||
Goudie D,
|
||
Roberts R,
|
||
Scheffer IE,
|
||
Marini C,
|
||
Patel J,
|
||
Berkovic SF,
|
||
Mulley JC,
|
||
Steinlein OK,
|
||
Bertrand D</span><br />
|
||
<span class="medgenPMjournal">Mol Pharmacol</span>
|
||
2008 Aug;74(2):379-91.
|
||
Epub 2008 May 2
|
||
doi: 10.1124/mol.107.044545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18456869" target="_blank">18456869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12769616">Nicotinic acetylcholine receptors and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinlein OK</span><br />
|
||
<span class="medgenPMjournal">Curr Drug Targets CNS Neurol Disord</span>
|
||
2002 Aug;1(4):443-8.
|
||
doi: 10.2174/1568007023339193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12769616" target="_blank">12769616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10709813">The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zucconi M,
|
||
Oldani A,
|
||
Smirne S,
|
||
Ferini-Strambi L</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2000 Jan;17(1):77-86.
|
||
doi: 10.1097/00004691-200001000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10709813" target="_blank">10709813</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%201%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31208268">Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datta AN,
|
||
Michoulas A,
|
||
Guella I;
|
||
EPGEN Study,
|
||
Demos M</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2019 Oct;34(12):728-734.
|
||
Epub 2019 Jun 17
|
||
doi: 10.1177/0883073819854853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31208268" target="_blank">31208268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23032131">A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sone D,
|
||
Sugawara T,
|
||
Sakakibara E,
|
||
Tomioka Y,
|
||
Taniguchi G,
|
||
Murata Y,
|
||
Watanabe M,
|
||
Kaneko S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2012 Oct;25(2):192-5.
|
||
Epub 2012 Sep 29
|
||
doi: 10.1016/j.yebeh.2012.07.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23032131" target="_blank">23032131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19087113">Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delgado-Escueta AV,
|
||
Bourgeois BF</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Dec;49 Suppl 9:13-24.
|
||
doi: 10.1111/j.1528-1167.2008.01922.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19087113" target="_blank">19087113</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 class="nl"><a target="_blank" href="/pubmed/9924907">Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakken KO,
|
||
Magnusson A,
|
||
Steinlein OK</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
1999 Jan;40(1):88-92.
|
||
doi: 10.1111/j.1528-1157.1999.tb01993.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9924907" target="_blank">9924907</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19087113">Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delgado-Escueta AV,
|
||
Bourgeois BF</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Dec;49 Suppl 9:13-24.
|
||
doi: 10.1111/j.1528-1167.2008.01922.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19087113" target="_blank">19087113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18685138">Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fedi M,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
O'Keefe G,
|
||
Marini C,
|
||
Mulligan R,
|
||
Gong S,
|
||
Tochon-Danguy H,
|
||
Reutens DC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2008 Sep 9;71(11):795-8.
|
||
Epub 2008 Aug 6
|
||
doi: 10.1212/01.wnl.0000316192.52731.77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18685138" target="_blank">18685138</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoda JC,
|
||
Gu W,
|
||
Friedli M,
|
||
Phillips HA,
|
||
Bertrand S,
|
||
Antonarakis SE,
|
||
Goudie D,
|
||
Roberts R,
|
||
Scheffer IE,
|
||
Marini C,
|
||
Patel J,
|
||
Berkovic SF,
|
||
Mulley JC,
|
||
Steinlein OK,
|
||
Bertrand D</span><br />
|
||
<span class="medgenPMjournal">Mol Pharmacol</span>
|
||
2008 Aug;74(2):379-91.
|
||
Epub 2008 May 2
|
||
doi: 10.1124/mol.107.044545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18456869" target="_blank">18456869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10643924">Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito M,
|
||
Kobayashi K,
|
||
Fujii T,
|
||
Okuno T,
|
||
Hirose S,
|
||
Iwata H,
|
||
Mitsudome A,
|
||
Kaneko S</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2000 Jan;41(1):52-8.
|
||
doi: 10.1111/j.1528-1157.2000.tb01505.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10643924" target="_blank">10643924</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,
|
||
Caloustian C,
|
||
Lorenzo F,
|
||
Márquez C,
|
||
Rodríguez N,
|
||
Jiménez MD,
|
||
Poza JJ,
|
||
Cobo AM,
|
||
Grid D,
|
||
Prud'homme JF,
|
||
López de Munain A</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1999 Aug;56(8):1004-9.
|
||
doi: 10.1001/archneur.56.8.1004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10448807" target="_blank">10448807</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</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=C1838049%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838049%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838049%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C1838049%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1838049%5bDISCUI%5d" target="_blank">See all (28)</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=600513" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=118504" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1137[geneid]" target="_blank">View CHRNA4 variations in ClinVar</a></li><li><a href="/nuccore/227496937" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=600513" 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_nocturnal_frontal_lobe_1" 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%201" 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/15319/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Reviews</h3>
|
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|
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|
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<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<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%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
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|
||
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|
||
<a href="/pubmed?term=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%201%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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|
||
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|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Related information</h3>
|
||
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|
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||
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||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=324932" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=324932" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1838049[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1838049[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=324932" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=324932" ref="log$=recordlinks">NCBI Bookshelf</a>
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||
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|
||
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|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=324932" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=324932" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
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|
||
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|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=324932" ref="log$=recordlinks">PMC Articles</a>
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||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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||
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|
||
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|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=324932" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=324932" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=324932" ref="log$=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=324932" 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>
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||
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|
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||
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||
Clear
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||
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