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<meta name="keywords" content="C1842852, adcme, adra2b epilepsy, familial adult myoclonic, bafme2, benign adult familial myoclonic epilepsy 2, cortical myoclonic tremor with epilepsy, familial, 2, cortical myoclonus and epilepsy, autosomal dominant, disease or syndrome, epilepsy, familial adult myoclonic 2, epilepsy, familial adult myoclonic caused by mutation in adra2b, epilepsy, familial adult myoclonic, 2, epilepsy, familial adult myoclonic, type 2, epilepsy, myoclonic, benign adult familial, type 2, fame2, fcmte2, stard7, 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="Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=375031
|
||
ConceptID=C1842852
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epilepsy, familial adult myoclonic, 2<span class="h1sub">(FAME2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375031</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1842852</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT; FAME2</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="STARD7 - ID: 56910 - NCBI Gene" href="/gene/56910" class="medgenPMinfo">STARD7</a> (2q11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011930" target="_blank">MONDO:0011930</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607876" target="_blank">607876</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<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_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90932"><div><strong>Cognitive impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90932</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.">C0338656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90932">Feature record</a> | <a href="/medgen?term=%22Cognitive%20impairment%22%5BClinical%20Features%5D%20OR%2090932%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765735"><div><strong>EEG with photoparoxysmal response</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765735</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.">C3552821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765735">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20photoparoxysmal%20response%22%5BClinical%20Features%5D%20OR%20765735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765738"><div><strong>Enhancement of the C-reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765738</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.">C3552824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765738">Feature record</a> | <a href="/medgen?term=%22Enhancement%20of%20the%20C-reflex%22%5BClinical%20Features%5D%20OR%20765738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765739"><div><strong>Jerk-locked premyoclonus spikes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765739</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.">C3552825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765739">Feature record</a> | <a href="/medgen?term=%22Jerk-locked%20premyoclonus%20spikes%22%5BClinical%20Features%5D%20OR%20765739%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="divPopper rprt" id="clin_813291"><div><strong>Giant somatosensory evoked potentials</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813291</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.">C3806961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813291">Feature record</a> | <a href="/medgen?term=%22Giant%20somatosensory%20evoked%20potentials%22%5BClinical%20Features%5D%20OR%20813291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871304"><div><strong>EEG with irregular generalized spike and wave complexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871304</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.">C4025792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871304">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20irregular%20generalized%20spike%20and%20wave%20complexes%22%5BClinical%20Features%5D%20OR%20871304%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_599"><div><strong>Blepharospasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>599</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.">C0005747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/599">Feature record</a> | <a href="/medgen?term=%22Blepharospasm%22%5BClinical%20Features%5D%20OR%20599%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_599" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharospasm</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with irregular generalized spike and wave complexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_765735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with photoparoxysmal response</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_765738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enhancement of the C-reflex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_813291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant somatosensory evoked potentials</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_765739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jerk-locked premyoclonus spikes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li></ul></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/38731471">CBD in the Treatment of Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borowicz-Reutt K,
|
||
Czernia J,
|
||
Krawczyk M</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2024 Apr 25;29(9)
|
||
doi: 10.3390/molecules29091981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38731471" target="_blank">38731471</a><a href="/pmc/articles/PMC11085483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32563898">Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montouris G,
|
||
Aboumatar S,
|
||
Burdette D,
|
||
Kothare S,
|
||
Kuzniecky R,
|
||
Rosenfeld W,
|
||
Chung S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Sep;110:107146.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1016/j.yebeh.2020.107146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32563898" target="_blank">32563898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32185791">Advances in the Treatment of Drug-Resistant Pediatric Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez-Giraldo E,
|
||
Sullivan JE</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Apr;40(2):257-262.
|
||
Epub 2020 Mar 17
|
||
doi: 10.1055/s-0040-1702941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32185791" target="_blank">32185791</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epilepsy%2C%20familial%20adult%20myoclonic%2C%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 (50)</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/36206805">Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Talwar A,
|
||
Estes E,
|
||
Aparasu R,
|
||
Reddy DS</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2023 Jan;359:114238.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1016/j.expneurol.2022.114238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36206805" target="_blank">36206805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
|
||
Valetto A,
|
||
Bertini V,
|
||
Esposito M,
|
||
Carli N,
|
||
Minassian BA,
|
||
Bonuccelli A,
|
||
Peroni D,
|
||
Michelucci R,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Oct;71:247-257.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1016/j.seizure.2019.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476531" target="_blank">31476531</a><a href="/pmc/articles/PMC7288863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30390221">Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Brigo F,
|
||
Trinka E,
|
||
Zaccara G,
|
||
Cagnetti C,
|
||
Del Giovane C,
|
||
Silvestrini M</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2018 Nov;78(17):1791-1804.
|
||
doi: 10.1007/s40265-018-0992-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30390221" target="_blank">30390221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28538134">Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devinsky O,
|
||
Cross JH,
|
||
Laux L,
|
||
Marsh E,
|
||
Miller I,
|
||
Nabbout R,
|
||
Scheffer IE,
|
||
Thiele EA,
|
||
Wright S;
|
||
Cannabidiol in Dravet Syndrome Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 May 25;376(21):2011-2020.
|
||
doi: 10.1056/NEJMoa1611618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28538134" target="_blank">28538134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Milh M,
|
||
Castiglioni C,
|
||
Lüthy K,
|
||
Finelli MJ,
|
||
Verstreken P,
|
||
Cardon A,
|
||
Stražišar BG,
|
||
Holder JL Jr,
|
||
Lesca G,
|
||
Mancardi MM,
|
||
Poulat AL,
|
||
Repetto GM,
|
||
Banka S,
|
||
Bilo L,
|
||
Birkeland LE,
|
||
Bosch F,
|
||
Brockmann K,
|
||
Cross JH,
|
||
Doummar D,
|
||
Félix TM,
|
||
Giuliano F,
|
||
Hori M,
|
||
Hüning I,
|
||
Kayserili H,
|
||
Kini U,
|
||
Lees MM,
|
||
Meenakshi G,
|
||
Mewasingh L,
|
||
Pagnamenta AT,
|
||
Peluso S,
|
||
Mey A,
|
||
Rice GM,
|
||
Rosenfeld JA,
|
||
Taylor JC,
|
||
Troester MM,
|
||
Stanley CM,
|
||
Ville D,
|
||
Walkiewicz M,
|
||
Falace A,
|
||
Fassio A,
|
||
Lemke JR,
|
||
Biskup S,
|
||
Tardif J,
|
||
Ajeawung NF,
|
||
Tolun A,
|
||
Corbett M,
|
||
Gecz J,
|
||
Afawi Z,
|
||
Howell KB,
|
||
Oliver KL,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
de Falco FA,
|
||
Oliver PL,
|
||
Striano P,
|
||
Zara F,
|
||
Campeau PM,
|
||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 5;87(1):77-85.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20adult%20myoclonic%2C%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 (355)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35596580">Epilepsy in neurodegenerative diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neri S,
|
||
Mastroianni G,
|
||
Gardella E,
|
||
Aguglia U,
|
||
Rubboli G</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2022 Apr 1;24(2):249-273.
|
||
doi: 10.1684/epd.2021.1406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35596580" target="_blank">35596580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34041744">CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ernst ME,
|
||
Baugh EH,
|
||
Thomas A,
|
||
Bier L,
|
||
Lippa N,
|
||
Stong N,
|
||
Mulhern MS,
|
||
Kushary S,
|
||
Akman CI,
|
||
Heinzen EL,
|
||
Yeh R,
|
||
Bi W,
|
||
Hanchard NA,
|
||
Burrage LC,
|
||
Leduc MS,
|
||
Chong JSC,
|
||
Bend R,
|
||
Lyons MJ,
|
||
Lee JA,
|
||
Suwannarat P,
|
||
Brilstra E,
|
||
Simon M,
|
||
Koopmans M,
|
||
van Binsbergen E,
|
||
Groepper D,
|
||
Fleischer J,
|
||
Nava C,
|
||
Keren B,
|
||
Mignot C,
|
||
Mathieu S,
|
||
Mancini GMS,
|
||
Madan-Khetarpal S,
|
||
Infante EM,
|
||
Bluvstein J,
|
||
Seeley A,
|
||
Bachman K,
|
||
Klee EW,
|
||
Schultz-Rogers LE,
|
||
Hasadsri L,
|
||
Barnett S,
|
||
Ellingson MS,
|
||
Ferber MJ,
|
||
Narayanan V,
|
||
Ramsey K,
|
||
Rauch A,
|
||
Joset P,
|
||
Steindl K,
|
||
Sheehan T,
|
||
Poduri A,
|
||
Vasquez A,
|
||
Ruivenkamp C,
|
||
White SM,
|
||
Pais L,
|
||
Monaghan KG,
|
||
Goldstein DB,
|
||
Sands TT,
|
||
Aggarwal V</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Jul;62(7):e103-e109.
|
||
Epub 2021 May 26
|
||
doi: 10.1111/epi.16931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34041744" target="_blank">34041744</a><a href="/pmc/articles/PMC9189716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32563898">Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montouris G,
|
||
Aboumatar S,
|
||
Burdette D,
|
||
Kothare S,
|
||
Kuzniecky R,
|
||
Rosenfeld W,
|
||
Chung S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Sep;110:107146.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1016/j.yebeh.2020.107146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32563898" target="_blank">32563898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
|
||
Valetto A,
|
||
Bertini V,
|
||
Esposito M,
|
||
Carli N,
|
||
Minassian BA,
|
||
Bonuccelli A,
|
||
Peroni D,
|
||
Michelucci R,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Oct;71:247-257.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1016/j.seizure.2019.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476531" target="_blank">31476531</a><a href="/pmc/articles/PMC7288863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Milh M,
|
||
Castiglioni C,
|
||
Lüthy K,
|
||
Finelli MJ,
|
||
Verstreken P,
|
||
Cardon A,
|
||
Stražišar BG,
|
||
Holder JL Jr,
|
||
Lesca G,
|
||
Mancardi MM,
|
||
Poulat AL,
|
||
Repetto GM,
|
||
Banka S,
|
||
Bilo L,
|
||
Birkeland LE,
|
||
Bosch F,
|
||
Brockmann K,
|
||
Cross JH,
|
||
Doummar D,
|
||
Félix TM,
|
||
Giuliano F,
|
||
Hori M,
|
||
Hüning I,
|
||
Kayserili H,
|
||
Kini U,
|
||
Lees MM,
|
||
Meenakshi G,
|
||
Mewasingh L,
|
||
Pagnamenta AT,
|
||
Peluso S,
|
||
Mey A,
|
||
Rice GM,
|
||
Rosenfeld JA,
|
||
Taylor JC,
|
||
Troester MM,
|
||
Stanley CM,
|
||
Ville D,
|
||
Walkiewicz M,
|
||
Falace A,
|
||
Fassio A,
|
||
Lemke JR,
|
||
Biskup S,
|
||
Tardif J,
|
||
Ajeawung NF,
|
||
Tolun A,
|
||
Corbett M,
|
||
Gecz J,
|
||
Afawi Z,
|
||
Howell KB,
|
||
Oliver KL,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
de Falco FA,
|
||
Oliver PL,
|
||
Striano P,
|
||
Zara F,
|
||
Campeau PM,
|
||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 5;87(1):77-85.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20adult%20myoclonic%2C%202%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 (392)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38731471">CBD in the Treatment of Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borowicz-Reutt K,
|
||
Czernia J,
|
||
Krawczyk M</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2024 Apr 25;29(9)
|
||
doi: 10.3390/molecules29091981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38731471" target="_blank">38731471</a><a href="/pmc/articles/PMC11085483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36762638">Recent advances in pharmacotherapy for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pong AW,
|
||
Xu KJ,
|
||
Klein P</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2023 Apr 1;36(2):77-85.
|
||
Epub 2023 Feb 10
|
||
doi: 10.1097/WCO.0000000000001144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36762638" target="_blank">36762638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32185791">Advances in the Treatment of Drug-Resistant Pediatric Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez-Giraldo E,
|
||
Sullivan JE</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Apr;40(2):257-262.
|
||
Epub 2020 Mar 17
|
||
doi: 10.1055/s-0040-1702941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32185791" target="_blank">32185791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30390221">Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Brigo F,
|
||
Trinka E,
|
||
Zaccara G,
|
||
Cagnetti C,
|
||
Del Giovane C,
|
||
Silvestrini M</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2018 Nov;78(17):1791-1804.
|
||
doi: 10.1007/s40265-018-0992-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30390221" target="_blank">30390221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28538134">Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devinsky O,
|
||
Cross JH,
|
||
Laux L,
|
||
Marsh E,
|
||
Miller I,
|
||
Nabbout R,
|
||
Scheffer IE,
|
||
Thiele EA,
|
||
Wright S;
|
||
Cannabidiol in Dravet Syndrome Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 May 25;376(21):2011-2020.
|
||
doi: 10.1056/NEJMoa1611618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28538134" target="_blank">28538134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20adult%20myoclonic%2C%202%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 (281)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
|
||
Valetto A,
|
||
Bertini V,
|
||
Esposito M,
|
||
Carli N,
|
||
Minassian BA,
|
||
Bonuccelli A,
|
||
Peroni D,
|
||
Michelucci R,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Oct;71:247-257.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1016/j.seizure.2019.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476531" target="_blank">31476531</a><a href="/pmc/articles/PMC7288863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30928698">Familial adult myoclonic epilepsy: A new expansion repeats disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lagorio I,
|
||
Zara F,
|
||
Striano S,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Apr;67:73-77.
|
||
Epub 2019 Mar 19
|
||
doi: 10.1016/j.seizure.2019.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30928698" target="_blank">30928698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24777117">Seizure control in Unverricht-Lundborg disease: a single-centre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roivainen R,
|
||
Karvonen MK,
|
||
Puumala T</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2014 Jun;16(2):191-5.
|
||
doi: 10.1684/epd.2014.0654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24777117" target="_blank">24777117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18184147">Is the first seizure truly epileptic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perrig S,
|
||
Jallon P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008;49 Suppl 1:2-7.
|
||
doi: 10.1111/j.1528-1167.2008.01442.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18184147" target="_blank">18184147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/106817">Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilligan B</span><br />
|
||
<span class="medgenPMjournal">Aust Fam Physician</span>
|
||
1979 Feb;8(2):179-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/106817" target="_blank">106817</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20adult%20myoclonic%2C%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 (182)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38953796">Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuccurullo C,
|
||
Cerulli Irelli E,
|
||
Ugga L,
|
||
Riva A,
|
||
D'Amico A,
|
||
Cabet S,
|
||
Lesca G,
|
||
Bilo L,
|
||
Zara F,
|
||
Iliescu C,
|
||
Barca D,
|
||
Fung F,
|
||
Helbig K,
|
||
Ortiz-Gonzalez X,
|
||
Schelhaas HJ,
|
||
Willemsen MH,
|
||
van der Linden I,
|
||
Canafoglia L,
|
||
Courage C,
|
||
Gommaraschi S,
|
||
Gonzalez-Alegre P,
|
||
Bardakjian T,
|
||
Syrbe S,
|
||
Schuler E,
|
||
Lemke JR,
|
||
Vari S,
|
||
Roende G,
|
||
Bak M,
|
||
Huq M,
|
||
Powis Z,
|
||
Johannesen KM,
|
||
Hammer TB,
|
||
Møller RS,
|
||
Rabin R,
|
||
Pappas J,
|
||
Zupanc ML,
|
||
Zadeh N,
|
||
Cohen J,
|
||
Naidu S,
|
||
Krey I,
|
||
Saneto R,
|
||
Thies J,
|
||
Licchetta L,
|
||
Tinuper P,
|
||
Bisulli F,
|
||
Minardi R,
|
||
Bayat A,
|
||
Villeneuve N,
|
||
Molinari F,
|
||
Salimi Dafsari H,
|
||
Moller B,
|
||
Le Roux M,
|
||
Houdayer C,
|
||
Vecchi M,
|
||
Mammi I,
|
||
Fiorini E,
|
||
Proietti J,
|
||
Ferri S,
|
||
Cantalupo G,
|
||
Battaglia DI,
|
||
Gambardella ML,
|
||
Contaldo I,
|
||
Brogna C,
|
||
Trivisano M,
|
||
De Dominicis A,
|
||
Bova SM,
|
||
Gardella E,
|
||
Striano P,
|
||
Coppola A</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Sep;65(9):2728-2750.
|
||
Epub 2024 Jul 2
|
||
doi: 10.1111/epi.18054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38953796" target="_blank">38953796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38165337">Molecular and Phenotypic Characterization of the RORB-Related Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gokce-Samar Z,
|
||
Vetro A,
|
||
De Bellescize J,
|
||
Pisano T,
|
||
Monteiro L,
|
||
Penaud N,
|
||
Korff CM,
|
||
Fluss J,
|
||
Marini C,
|
||
Cesaroni E,
|
||
Alvarez BM,
|
||
Sanlaville D,
|
||
Chatron N,
|
||
Arzimanoglou AA,
|
||
Labalme A,
|
||
Cuddapah VA,
|
||
Ruggiero SM,
|
||
Lecoquierre F,
|
||
Nicolas G,
|
||
Marie GA,
|
||
Lebas A,
|
||
Testard HO,
|
||
Helbig KL,
|
||
Ruiz A,
|
||
Ngoh A,
|
||
Kurian MA,
|
||
Reid K,
|
||
Spaull R,
|
||
Joset P,
|
||
Ramantani G,
|
||
Steindl K,
|
||
Krenn M,
|
||
Gerstl L,
|
||
Vieker S,
|
||
Craiu D,
|
||
Pendziwiat M,
|
||
Haldeman-Englert C,
|
||
Kanivets I,
|
||
Romanova I,
|
||
Rajan DS,
|
||
Rosenfeld JA,
|
||
Au M,
|
||
Grand K,
|
||
Graham M Jr,
|
||
Isapof A,
|
||
Villeneuve N,
|
||
Smol T,
|
||
Caumes R,
|
||
Zacher P,
|
||
Neuser S,
|
||
Tinschert S,
|
||
Platzer K,
|
||
Bartolomaeus T,
|
||
Mohnke I,
|
||
Radtke M,
|
||
Jamra RA,
|
||
Helbig I,
|
||
Jansen FE,
|
||
Koop K,
|
||
Rudolf G,
|
||
Küry S,
|
||
Courchet J,
|
||
Guerrini R,
|
||
Lesca G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Jan 23;102(2):e207945.
|
||
Epub 2023 Dec 22
|
||
doi: 10.1212/WNL.0000000000207945.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38165337" target="_blank">38165337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31862249">Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lagae L,
|
||
Sullivan J,
|
||
Knupp K,
|
||
Laux L,
|
||
Polster T,
|
||
Nikanorova M,
|
||
Devinsky O,
|
||
Cross JH,
|
||
Guerrini R,
|
||
Talwar D,
|
||
Miller I,
|
||
Farfel G,
|
||
Galer BS,
|
||
Gammaitoni A,
|
||
Mistry A,
|
||
Morrison G,
|
||
Lock M,
|
||
Agarwal A,
|
||
Lai WW,
|
||
Ceulemans B;
|
||
FAiRE DS Study Group</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2019 Dec 21;394(10216):2243-2254.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1016/S0140-6736(19)32500-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31862249" target="_blank">31862249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27281533">TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Milh M,
|
||
Castiglioni C,
|
||
Lüthy K,
|
||
Finelli MJ,
|
||
Verstreken P,
|
||
Cardon A,
|
||
Stražišar BG,
|
||
Holder JL Jr,
|
||
Lesca G,
|
||
Mancardi MM,
|
||
Poulat AL,
|
||
Repetto GM,
|
||
Banka S,
|
||
Bilo L,
|
||
Birkeland LE,
|
||
Bosch F,
|
||
Brockmann K,
|
||
Cross JH,
|
||
Doummar D,
|
||
Félix TM,
|
||
Giuliano F,
|
||
Hori M,
|
||
Hüning I,
|
||
Kayserili H,
|
||
Kini U,
|
||
Lees MM,
|
||
Meenakshi G,
|
||
Mewasingh L,
|
||
Pagnamenta AT,
|
||
Peluso S,
|
||
Mey A,
|
||
Rice GM,
|
||
Rosenfeld JA,
|
||
Taylor JC,
|
||
Troester MM,
|
||
Stanley CM,
|
||
Ville D,
|
||
Walkiewicz M,
|
||
Falace A,
|
||
Fassio A,
|
||
Lemke JR,
|
||
Biskup S,
|
||
Tardif J,
|
||
Ajeawung NF,
|
||
Tolun A,
|
||
Corbett M,
|
||
Gecz J,
|
||
Afawi Z,
|
||
Howell KB,
|
||
Oliver KL,
|
||
Berkovic SF,
|
||
Scheffer IE,
|
||
de Falco FA,
|
||
Oliver PL,
|
||
Striano P,
|
||
Zara F,
|
||
Campeau PM,
|
||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Jul 5;87(1):77-85.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1212/WNL.0000000000002807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27281533" target="_blank">27281533</a><a href="/pmc/articles/PMC4932231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19486360">Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veredice C,
|
||
Bianco F,
|
||
Contaldo I,
|
||
Orteschi D,
|
||
Stefanini MC,
|
||
Battaglia D,
|
||
Lettori D,
|
||
Guzzetta F,
|
||
Zollino M</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2009 Jul;50(7):1810-5.
|
||
Epub 2009 Apr 19
|
||
doi: 10.1111/j.1528-1167.2009.02078.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19486360" target="_blank">19486360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20adult%20myoclonic%2C%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 (271)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38277848">Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tong J,
|
||
Ji T,
|
||
Liu T,
|
||
Liu J,
|
||
Chen Y,
|
||
Li Z,
|
||
Lu N,
|
||
Li Q</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Mar;152:109653.
|
||
Epub 2024 Jan 25
|
||
doi: 10.1016/j.yebeh.2024.109653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38277848" target="_blank">38277848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38231304">KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoganathan S,
|
||
Whitney R,
|
||
Thomas M,
|
||
Danda S,
|
||
Chettali AM,
|
||
Prasad AN,
|
||
Farhan SMK,
|
||
AlSowat D,
|
||
Abukhaled M,
|
||
Aldhalaan H,
|
||
Gowda VK,
|
||
Kinhal UV,
|
||
Bylappa AY,
|
||
Konanki R,
|
||
Lingappa L,
|
||
Parchuri BM,
|
||
Appendino JP,
|
||
Scantlebury MH,
|
||
Cunningham J,
|
||
Hadjinicolaou A,
|
||
El Achkar CM,
|
||
Kamate M,
|
||
Menon RN,
|
||
Jose M,
|
||
Riordan G,
|
||
Kannan L,
|
||
Jain V,
|
||
Manokaran RK,
|
||
Chau V,
|
||
Donner EJ,
|
||
Costain G,
|
||
Minassian BA,
|
||
Jain P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Mar;65(3):709-724.
|
||
Epub 2024 Jan 17
|
||
doi: 10.1111/epi.17880.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38231304" target="_blank">38231304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37695433">Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Trinka E,
|
||
Russo E,
|
||
Del Giovane C,
|
||
Matricardi S,
|
||
Meletti S,
|
||
Striano P,
|
||
Damavandi PT,
|
||
Silvestrini M,
|
||
Brigo F</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Oct;83(15):1409-1424.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1007/s40265-023-01936-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37695433" target="_blank">37695433</a><a href="/pmc/articles/PMC10582139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36206805">Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Talwar A,
|
||
Estes E,
|
||
Aparasu R,
|
||
Reddy DS</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2023 Jan;359:114238.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1016/j.expneurol.2022.114238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36206805" target="_blank">36206805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30390221">Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lattanzi S,
|
||
Brigo F,
|
||
Trinka E,
|
||
Zaccara G,
|
||
Cagnetti C,
|
||
Del Giovane C,
|
||
Silvestrini M</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2018 Nov;78(17):1791-1804.
|
||
doi: 10.1007/s40265-018-0992-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30390221" target="_blank">30390221</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epilepsy%2C%20familial%20adult%20myoclonic%2C%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1842852%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1842852%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607876" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epilepsy,%20familial%20adult%20myoclonic,%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epilepsy%2C%20familial%20adult%20myoclonic%2C%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616712" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=56910[geneid]" target="_blank">View STARD7 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=607876" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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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_familial_adult_myoclonic_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epilepsy,%20familial%20adult%20myoclonic,%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18083/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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<div class="portlet_title">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
|
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<a href="/pubmed/clinical?term=Epilepsy,%20familial%20adult%20myoclonic,%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca5cbf4a390645e8925ab">Epilepsy, familial adult myoclonic, 2</a>
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