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<meta name="keywords" content="C1864125, autosomal dominant nocturnal frontal lobe epilepsy 2, autosomal dominant nocturnal frontal lobe epilepsy type 2, disease or syndrome, enfl2, epilepsy, nocturnal frontal lobe, 2, epilepsy, nocturnal frontal lobe, type 2, nocturnal frontal lobe epilepsy 2, 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=351053
|
||
ConceptID=C1864125
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant nocturnal frontal lobe epilepsy 2<span class="h1sub">(ENFL2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351053</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.">C1864125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Epilepsy, nocturnal frontal lobe, type 2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011297" target="_blank">MONDO:0011297</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/603204" target="_blank">603204</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>
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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 />Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations (summary by Derry et al., 2008).
|
||
For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513). <a target="_blank" href="http://www.omim.org/entry/603204">http://www.omim.org/entry/603204</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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%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_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div><div class="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_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li></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="matched_ds"><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">Autosomal dominant nocturnal frontal lobe epilepsy 2</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 2</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9551294">Differential diagnosis of sleep disorders, non-epileptic attacks and epileptic seizures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts R</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1998 Apr;11(2):135-9.
|
||
doi: 10.1097/00019052-199804000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9551294" target="_blank">9551294</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></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/23429546">Genetics of the epilepsies: where are we and where are we going?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Helbig I,
|
||
Lowenstein DH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2013 Apr;26(2):179-85.
|
||
doi: 10.1097/WCO.0b013e32835ee6ff.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23429546" target="_blank">23429546</a><a href="/pmc/articles/PMC3781236" 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/15816978">Genetics of idiopathic epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirose S,
|
||
Mitsudome A,
|
||
Okada M,
|
||
Kaneko S;
|
||
Epilepsy Genetic Study Group, Japan</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2005;46 Suppl 1:38-43.
|
||
doi: 10.1111/j.0013-9580.2005.461011.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15816978" target="_blank">15816978</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%202%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 (16)</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/23429546">Genetics of the epilepsies: where are we and where are we going?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Helbig I,
|
||
Lowenstein DH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2013 Apr;26(2):179-85.
|
||
doi: 10.1097/WCO.0b013e32835ee6ff.
|
||
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Delgado-Escueta AV,
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Bourgeois BF</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%202%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/22036597">Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Steinlein OK,
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Hoda JC,
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<span class="bold">PMID: </span><a href="/pubmed/22036597" target="_blank">22036597</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18317273">The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%202%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 (20)</a></div></div>
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864125%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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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>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epilepsy_nocturnal_frontal_lobe_2" 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%202" 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/15352/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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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>
|
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<a href="/pubmed/clinical?term=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Autosomal%20dominant%20nocturnal%20frontal%20lobe%20epilepsy%202%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d30c532f30673f7b9f09a4">Autosomal dominant nocturnal frontal lobe epilepsy 2</a>
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<div class="ralinkpop offscreen_noflow">Autosomal dominant nocturnal frontal lobe epilepsy 2<div class="brieflinkpopdesc"></div></div>
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<div class="ralinkpop offscreen_noflow">STX1B syntaxin 1B [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:112755</div></div>
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<div class="tertiary">Gene</div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d30c10cde49f3df77c7aa5">syntaxin-1B [Homo sapiens]</a>
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<div class="ralinkpop offscreen_noflow">syntaxin-1B [Homo sapiens]<div class="brieflinkpopdesc">gi|16418379|ref|NP_443106.1|</div></div>
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<div class="tertiary">Protein</div>
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d30c0bcde49f3df77c5d63">CABP4 calcium binding protein 4 [Homo sapiens]</a>
|
||
<div class="ralinkpop offscreen_noflow">CABP4 calcium binding protein 4 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:57010</div></div>
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<div class="tertiary">Gene</div>
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