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<meta name="keywords" content="C3539916, disease or syndrome, familial cortical myoclonus, familial myoclonus of cerebral cortex, fcm, myocl1, myoclonus, familial cortical, myoclonus, familial, 1, nol3, 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 myoclonus-1 (MYOCL1) is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=761667
|
||
ConceptID=C3539916
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myoclonus, familial, 1<span class="h1sub">(MYOCL1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761667</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:">C3539916</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>Familial cortical myoclonus; MYOCL1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial cortical myoclonus (763770005); Familial myoclonus of cerebral cortex (763770005)</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="NOL3 - ID: 8996 - NCBI Gene" href="/gene/8996" class="medgenPMinfo">NOL3</a> (16q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100093" target="_blank">MONDO:0100093</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614937" target="_blank">614937</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>
|
||
<div class="portlet_content ln">Familial myoclonus-1 (MYOCL1) is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_65875"><div><strong>Action tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65875</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.">C0234376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65875">Feature record</a> | <a href="/medgen?term=%22Action%20tremor%22%5BClinical%20Features%5D%20OR%2065875%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155545"><div><strong>Action myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155545</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.">C0751354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155545">Feature record</a> | <a href="/medgen?term=%22Action%20myoclonus%22%5BClinical%20Features%5D%20OR%20155545%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_214589"><div><strong>Insomnia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>214589</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.">C0917801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent difficulty initiating or maintaining sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/214589">Feature record</a> | <a href="/medgen?term=%22Insomnia%22%5BClinical%20Features%5D%20OR%20214589%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163408"><div><strong>Frequent falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163408</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.">C0850703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163408">Feature record</a> | <a href="/medgen?term=%22Frequent%20falls%22%5BClinical%20Features%5D%20OR%20163408%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frequent falls</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_155545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Action myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65875" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Action tremor</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_214589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insomnia</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></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/35260471">Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossor T,
|
||
Yeh EA,
|
||
Khakoo Y,
|
||
Angelini P,
|
||
Hemingway C,
|
||
Irani SR,
|
||
Schleiermacher G,
|
||
Santosh P,
|
||
Lotze T,
|
||
Dale RC,
|
||
Deiva K,
|
||
Hero B,
|
||
Klein A,
|
||
de Alarcon P,
|
||
Gorman MP,
|
||
Mitchell WG,
|
||
Lim M;
|
||
OMS Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2022 May;9(3)
|
||
Epub 2022 Mar 8
|
||
doi: 10.1212/NXI.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35260471" target="_blank">35260471</a><a href="/pmc/articles/PMC8906188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20482602">EFNS guidelines on diagnosis and treatment of primary dystonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albanese A,
|
||
Asmus F,
|
||
Bhatia KP,
|
||
Elia AE,
|
||
Elibol B,
|
||
Filippini G,
|
||
Gasser T,
|
||
Krauss JK,
|
||
Nardocci N,
|
||
Newton A,
|
||
Valls-Solé J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2011 Jan;18(1):5-18.
|
||
doi: 10.1111/j.1468-1331.2010.03042.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20482602" target="_blank">20482602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14510623">Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Carrozzo R,
|
||
Rinaldi R,
|
||
Bonanni P</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2003;5(10):647-61.
|
||
doi: 10.2165/00148581-200305100-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14510623" target="_blank">14510623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(myoclonus%2C%20familial%2C%201)%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 (16)</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/38088023">Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppola A,
|
||
Krithika S,
|
||
Iacomino M,
|
||
Bobbili D,
|
||
Balestrini S,
|
||
Bagnasco I,
|
||
Bilo L,
|
||
Buti D,
|
||
Casellato S,
|
||
Cuccurullo C,
|
||
Ferlazzo E,
|
||
Leu C,
|
||
Giordano L,
|
||
Gobbi G,
|
||
Hernandez-Hernandez L,
|
||
Lench N,
|
||
Martins H,
|
||
Meletti S,
|
||
Messana T,
|
||
Nigro V,
|
||
Pinelli M,
|
||
Pippucci T,
|
||
Bellampalli R,
|
||
Salis B,
|
||
Sofia V,
|
||
Striano P,
|
||
Striano S,
|
||
Tassi L,
|
||
Vignoli A,
|
||
Vaudano AE,
|
||
Viri M,
|
||
Scheffer IE,
|
||
May P,
|
||
Zara F,
|
||
Sisodiya SM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Mar;65(3):779-791.
|
||
Epub 2023 Dec 23
|
||
doi: 10.1111/epi.17859.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38088023" target="_blank">38088023</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37121024">A comprehensive narrative review of epilepsy with eyelid myoclonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith KM,
|
||
Wirrell EC,
|
||
Andrade DM,
|
||
Choi H,
|
||
Trenité DK,
|
||
Knupp KG,
|
||
Nordli DR Jr,
|
||
Riva A,
|
||
Stern JM,
|
||
Striano P,
|
||
Thiele EA,
|
||
Zawar I</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2023 Jul;193:107147.
|
||
Epub 2023 Apr 26
|
||
doi: 10.1016/j.eplepsyres.2023.107147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37121024" target="_blank">37121024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35260471">Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossor T,
|
||
Yeh EA,
|
||
Khakoo Y,
|
||
Angelini P,
|
||
Hemingway C,
|
||
Irani SR,
|
||
Schleiermacher G,
|
||
Santosh P,
|
||
Lotze T,
|
||
Dale RC,
|
||
Deiva K,
|
||
Hero B,
|
||
Klein A,
|
||
de Alarcon P,
|
||
Gorman MP,
|
||
Mitchell WG,
|
||
Lim M;
|
||
OMS Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2022 May;9(3)
|
||
Epub 2022 Mar 8
|
||
doi: 10.1212/NXI.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35260471" target="_blank">35260471</a><a href="/pmc/articles/PMC8906188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26907167">Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hitomi T,
|
||
Kobayashi K,
|
||
Sakurai T,
|
||
Ueda S,
|
||
Jingami N,
|
||
Kanazawa K,
|
||
Matsumoto R,
|
||
Takahashi R,
|
||
Ikeda A</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2016 Mar;18(1):67-72.
|
||
doi: 10.1684/epd.2016.0807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26907167" target="_blank">26907167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26165445">Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang S,
|
||
Lei C,
|
||
Liu P,
|
||
Zhang M,
|
||
Tao W,
|
||
Liu H,
|
||
Liu M</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2015 Sep;56:180-92.
|
||
Epub 2015 Jul 10
|
||
doi: 10.1016/j.neubiorev.2015.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26165445" target="_blank">26165445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonus%2C%20familial%2C%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (113)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35260471">Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossor T,
|
||
Yeh EA,
|
||
Khakoo Y,
|
||
Angelini P,
|
||
Hemingway C,
|
||
Irani SR,
|
||
Schleiermacher G,
|
||
Santosh P,
|
||
Lotze T,
|
||
Dale RC,
|
||
Deiva K,
|
||
Hero B,
|
||
Klein A,
|
||
de Alarcon P,
|
||
Gorman MP,
|
||
Mitchell WG,
|
||
Lim M;
|
||
OMS Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2022 May;9(3)
|
||
Epub 2022 Mar 8
|
||
doi: 10.1212/NXI.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35260471" target="_blank">35260471</a><a href="/pmc/articles/PMC8906188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30410817">Dentatorubral-pallidoluysian Atrophy: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carroll LS,
|
||
Massey TH,
|
||
Wardle M,
|
||
Peall KJ</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2018;8:577.
|
||
Epub 2018 Oct 1
|
||
doi: 10.7916/D81N9HST.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30410817" target="_blank">30410817</a><a href="/pmc/articles/PMC6222020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26907167">Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hitomi T,
|
||
Kobayashi K,
|
||
Sakurai T,
|
||
Ueda S,
|
||
Jingami N,
|
||
Kanazawa K,
|
||
Matsumoto R,
|
||
Takahashi R,
|
||
Ikeda A</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2016 Mar;18(1):67-72.
|
||
doi: 10.1684/epd.2016.0807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26907167" target="_blank">26907167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1348352">Tardive tremor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stacy M,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
1992;7(1):53-7.
|
||
doi: 10.1002/mds.870070110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1348352" target="_blank">1348352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4434166">Familial essential myoclonus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korten JJ,
|
||
Notermans SL,
|
||
Frenken CW,
|
||
Gabreels FJ,
|
||
Joosten EM</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1974 Mar;97(1):131-8.
|
||
doi: 10.1093/brain/97.1.131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4434166" target="_blank">4434166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonus%2C%20familial%2C%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (203)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37121024">A comprehensive narrative review of epilepsy with eyelid myoclonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith KM,
|
||
Wirrell EC,
|
||
Andrade DM,
|
||
Choi H,
|
||
Trenité DK,
|
||
Knupp KG,
|
||
Nordli DR Jr,
|
||
Riva A,
|
||
Stern JM,
|
||
Striano P,
|
||
Thiele EA,
|
||
Zawar I</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2023 Jul;193:107147.
|
||
Epub 2023 Apr 26
|
||
doi: 10.1016/j.eplepsyres.2023.107147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37121024" target="_blank">37121024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29412983">Parasomnias and Sleep-Related Movement Disorders in Older Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iranzo A</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Clin</span>
|
||
2018 Mar;13(1):51-61.
|
||
Epub 2017 Nov 15
|
||
doi: 10.1016/j.jsmc.2017.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29412983" target="_blank">29412983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20482602">EFNS guidelines on diagnosis and treatment of primary dystonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albanese A,
|
||
Asmus F,
|
||
Bhatia KP,
|
||
Elia AE,
|
||
Elibol B,
|
||
Filippini G,
|
||
Gasser T,
|
||
Krauss JK,
|
||
Nardocci N,
|
||
Newton A,
|
||
Valls-Solé J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2011 Jan;18(1):5-18.
|
||
doi: 10.1111/j.1468-1331.2010.03042.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20482602" target="_blank">20482602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7484228">Serotonin syndrome in Parkinson disease.</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/37366140">Parkinson's disease - genetic cause.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37366140">Parkinson's disease - genetic cause.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cherian A,
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K P D,
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Vijayaraghavan A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37366140" target="_blank">37366140</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10484766">Instability of the EPM1 minisatellite.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonus%2C%20familial%2C%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (127)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38231304">KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.</a></div>
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Whitney R,
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Thomas M,
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Danda S,
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Prasad AN,
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Farhan SMK,
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AlSowat D,
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Abukhaled M,
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Aldhalaan H,
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Gowda VK,
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Kinhal UV,
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Bylappa AY,
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Konanki R,
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Lingappa L,
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Parchuri BM,
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Appendino JP,
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Scantlebury MH,
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Cunningham J,
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Hadjinicolaou A,
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El Achkar CM,
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Kamate M,
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Menon RN,
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Jose M,
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Riordan G,
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Kannan L,
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Manokaran RK,
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<span class="bold">PMID: </span><a href="/pubmed/38231304" target="_blank">38231304</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35672188">Geniospasm: A systematic review on natural history, prognosis, and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Teng LY,
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Abd Hadi D,
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<span class="bold">PMID: </span><a href="/pubmed/35672188" target="_blank">35672188</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35024921">Movement disorders associated with neuronal antibodies: a data-driven approach.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sturchio A,
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Dwivedi AK,
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Gastaldi M,
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Grimberg MB,
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Businaro P,
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Duque KR,
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Vizcarra JA,
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Abdelghany E,
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Balint B,
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Marsili L,
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Epub 2022 Jan 13
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doi: 10.1007/s00415-021-10934-7.
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<span class="bold">PMID: </span><a href="/pubmed/35024921" target="_blank">35024921</a><a href="/pmc/articles/PMC8756747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/29416935">Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van den Ende T,
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Sharifi S,
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van der Salm SMA,
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|
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<div class="nl"><a target="_blank" href="/pubmed/26337232">A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shea YF,
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Chu LW,
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Chan AO,
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Ha J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myoclonus%2C%20familial%2C%201%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>
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||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div>
|
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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=C3539916%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C3539916%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3539916%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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</ul></div>
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</div>
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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=614937" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myoclonus,%20familial,%201" 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=(myoclonus%2C%20familial%2C%201)%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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<a href="/pubmed/clinical?term=Myoclonus,%20familial,%201" 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$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ccabf184f3725e59971bfd">Myoclonus, familial, 1</a>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ccabeef4a390645e9f3e42">C1834570[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(5)</span></a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ccabed84f3725e599712a7">C0796081[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(7)</span></a>
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<div class="tertiary">ClinVar</div>
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