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<meta name="keywords" content="C4225289, disease or syndrome, epilepsy, progressive myoclonic, 9, epilepsy, progressive myoclonic, type 9, epm9, lmnb2, lmnb2 progressive myoclonic epilepsy, pme (progressive myoclonic epilepsy) type 9, pme type 9, progressive myoclonic epilepsy caused by mutation in lmnb2, progressive myoclonic epilepsy due to lmnb2 (lamin b2) deficiency, progressive myoclonic epilepsy due to lmnb2 deficiency, progressive myoclonic epilepsy type 9, progressive myoclonus epilepsy type 9, 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="Progressive myoclonic epilepsy-9 (EPM9) is an autosomal recessive disorder characterized by onset of myoclonic seizures between 6 and 7 years of age, with progression to falling and tonic-clonic seizures, severe action myoclonus, and neurologic decline. Diffuse muscle wasting and loss of subcutaneous fat are present (Damiano et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=901242
|
||
ConceptID=C4225289
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive myoclonic epilepsy type 9<span class="h1sub">(EPM9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901242</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:">C4225289</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>EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Progressive myoclonic epilepsy type 9 (1228857005); Progressive myoclonic epilepsy due to LMNB2 deficiency (1228857005); Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency (1228857005); Progressive myoclonus epilepsy type 9 (1228857005); PME (progressive myoclonic epilepsy) type 9 (1228857005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="LMNB2 - ID: 84823 - NCBI Gene" href="/gene/84823" class="medgenPMinfo">LMNB2</a> (19p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014685" target="_blank">MONDO:0014685</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616540" target="_blank">616540</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457265">ORPHA457265</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">
|
||
<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">Progressive myoclonic epilepsy-9 (EPM9) is an autosomal recessive disorder characterized by onset of myoclonic seizures between 6 and 7 years of age, with progression to falling and tonic-clonic seizures, severe action myoclonus, and neurologic decline. Diffuse muscle wasting and loss of subcutaneous fat are present (Damiano et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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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_98469"><div><strong>Short thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98469</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.">C0431890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplasia (congenital reduction in size) of the thumb.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98469">Feature record</a> | <a href="/medgen?term=%22Short%20thumb%22%5BClinical%20Features%5D%20OR%2098469%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_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</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.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%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_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%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_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</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.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339924"><div><strong>Interhemispheric cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339924</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.">C1853188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339924">Feature record</a> | <a href="/medgen?term=%22Interhemispheric%20cyst%22%5BClinical%20Features%5D%20OR%20339924%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_413664"><div><strong>Simplified gyral pattern</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413664</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.">C2749675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413664">Feature record</a> | <a href="/medgen?term=%22Simplified%20gyral%20pattern%22%5BClinical%20Features%5D%20OR%20413664%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%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="divPopper rprt" id="clin_234650"><div><strong>Generalized amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234650</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.">C1389113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234650">Feature record</a> | <a href="/medgen?term=%22Generalized%20amyotrophy%22%5BClinical%20Features%5D%20OR%20234650%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10029"><div><strong>Microglossia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10029</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.">C0025988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased length and width of the tongue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10029">Feature record</a> | <a href="/medgen?term=%22Microglossia%22%5BClinical%20Features%5D%20OR%2010029%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_10029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microglossia</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short thumb</a></span></li></ul></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_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_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interhemispheric cyst</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_413664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simplified gyral pattern</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225289[DISCUI]&test_type=Clinical" ref="ncbi_uid=901242">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=901242" target="_blank" href="/omim/150341">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=901242" ref="ncbi_uid=901242">V</a></span></span><span class="TLline">Progressive myoclonic epilepsy type 9</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/14214" ref="tree=MeSH" title="MedGen record for Brain disorder">Brain disorder</a></span><ul><li><span class="TLline"><a href="/medgen/4506" ref="tree=MeSH" title="MedGen record for Epilepsy">Epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/199732" ref="tree=MeSH" title="MedGen record for Progressive myoclonic epilepsy">Progressive myoclonic epilepsy</a></span><ul><li><span class="matched_ds">Progressive myoclonic epilepsy type 9</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32920378">Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosak M,
|
||
Sułek A,
|
||
Łukasik M,
|
||
Żak A,
|
||
Słowik A,
|
||
Lasek-Bal A</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Nov;112:107439.
|
||
Epub 2020 Sep 10
|
||
doi: 10.1016/j.yebeh.2020.107439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32920378" target="_blank">32920378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(progressive%20myoclonic%20epilepsy%20type%209)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37536959">Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogt H,
|
||
Baisch T,
|
||
Mueller-Pfeiffer C,
|
||
Mothersill IW</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2023 Jun;25(3):297-308.
|
||
Epub 2023 May 22
|
||
doi: 10.1002/epd2.20017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37536959" target="_blank">37536959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34474241">Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosny H,
|
||
El Tamawy M,
|
||
Gouider R,
|
||
Lesca G,
|
||
Abdel Naseer M,
|
||
Kishk N,
|
||
Abdel-Hamid MS,
|
||
Ashmawi A</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2021 Oct;176:106746.
|
||
Epub 2021 Aug 25
|
||
doi: 10.1016/j.eplepsyres.2021.106746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34474241" target="_blank">34474241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29778029">Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beltrán L,
|
||
Valenzuela GR,
|
||
Loos M,
|
||
Vargas R,
|
||
Lizama R,
|
||
Spinsanti P,
|
||
Caraballo R</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2018 Aug;144:49-52.
|
||
Epub 2018 May 16
|
||
doi: 10.1016/j.eplepsyres.2018.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29778029" target="_blank">29778029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27742667">Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moen MN,
|
||
Fjær R,
|
||
Hamdani EH,
|
||
Laerdahl JK,
|
||
Menchini RJ,
|
||
Vigeland MD,
|
||
Sheng Y,
|
||
Undlien DE,
|
||
Hassel B,
|
||
Salih MA,
|
||
El Khashab HY,
|
||
Selmer KK,
|
||
Chaudhry FA</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2016 Dec;139(Pt 12):3109-3120.
|
||
Epub 2016 Oct 14
|
||
doi: 10.1093/brain/aww244.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27742667" target="_blank">27742667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7822747">Inherited epilepsies of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchhalter JR</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1994 Oct;9 Suppl 1:S12-9.
|
||
doi: 10.1177/0883073894009001041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7822747" target="_blank">7822747</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20myoclonic%20epilepsy%20type%209%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/37541097">Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal (1)H MRS brain metabolic profiles associated with cognitive function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hyppönen J,
|
||
Paanila V,
|
||
Äikiä M,
|
||
Koskenkorva P,
|
||
Könönen M,
|
||
Vanninen R,
|
||
Mervaala E,
|
||
Kälviäinen R,
|
||
Hakumäki J</span><br />
|
||
<span class="medgenPMjournal">Neuroimage Clin</span>
|
||
2023;39:103459.
|
||
Epub 2023 Jul 3
|
||
doi: 10.1016/j.nicl.2023.103459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37541097" target="_blank">37541097</a><a href="/pmc/articles/PMC10412857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34474241">Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosny H,
|
||
El Tamawy M,
|
||
Gouider R,
|
||
Lesca G,
|
||
Abdel Naseer M,
|
||
Kishk N,
|
||
Abdel-Hamid MS,
|
||
Ashmawi A</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2021 Oct;176:106746.
|
||
Epub 2021 Aug 25
|
||
doi: 10.1016/j.eplepsyres.2021.106746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34474241" target="_blank">34474241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34399803">Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
|
||
Muccioli L,
|
||
Licchetta L,
|
||
Mostacci B,
|
||
Zenesini C,
|
||
Tinuper P,
|
||
Vignatelli L,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Aug 16;16(1):362.
|
||
doi: 10.1186/s13023-021-01989-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399803" target="_blank">34399803</a><a href="/pmc/articles/PMC8365996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603771">Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manninen O,
|
||
Laitinen T,
|
||
Lehtimäki KK,
|
||
Tegelberg S,
|
||
Lehesjoki AE,
|
||
Gröhn O,
|
||
Kopra O</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2014;9(6):e90709.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1371/journal.pone.0090709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603771" target="_blank">24603771</a><a href="/pmc/articles/PMC3948351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20myoclonic%20epilepsy%20type%209%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38693756">Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breuillard D,
|
||
Ouss L,
|
||
Le Normand MT,
|
||
Denis TS,
|
||
Barnerias C,
|
||
Robert MP,
|
||
Eisermann M,
|
||
Boddaert N,
|
||
Caillaud C,
|
||
Bahi-Buisson N,
|
||
Desguerre I,
|
||
Aubart M</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Sep;31(9):e16324.
|
||
Epub 2024 May 1
|
||
doi: 10.1111/ene.16324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38693756" target="_blank">38693756</a><a href="/pmc/articles/PMC11295157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38135787">CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gumusgoz E,
|
||
Kasiri S,
|
||
Verma M,
|
||
Wu J,
|
||
Villarreal Acha D,
|
||
Marriam U,
|
||
Fyffe-Maricich S,
|
||
Lin A,
|
||
Chen X,
|
||
Gray SJ,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2024 May;31(5-6):234-241.
|
||
Epub 2023 Dec 22
|
||
doi: 10.1038/s41434-023-00433-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38135787" target="_blank">38135787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16758485">Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browner N,
|
||
Azher SN,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2006 Sep;21(9):1500-2.
|
||
doi: 10.1002/mds.20991.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16758485" target="_blank">16758485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15875342">Stiripentol: new preparation. Severe myoclonic epilepsy of infancy: promising.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Prescrire Int</span>
|
||
2005 Apr;14(76):57-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15875342" target="_blank">15875342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2118240">Antimyoclonic effects of alcohol in progressive myoclonus epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genton P,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1990 Sep;40(9):1412-6.
|
||
doi: 10.1212/wnl.40.9.1412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2118240" target="_blank">2118240</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20myoclonic%20epilepsy%20type%209%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37536959">Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogt H,
|
||
Baisch T,
|
||
Mueller-Pfeiffer C,
|
||
Mothersill IW</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2023 Jun;25(3):297-308.
|
||
Epub 2023 May 22
|
||
doi: 10.1002/epd2.20017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37536959" target="_blank">37536959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34399803">Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
|
||
Muccioli L,
|
||
Licchetta L,
|
||
Mostacci B,
|
||
Zenesini C,
|
||
Tinuper P,
|
||
Vignatelli L,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Aug 16;16(1):362.
|
||
doi: 10.1186/s13023-021-01989-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399803" target="_blank">34399803</a><a href="/pmc/articles/PMC8365996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33721773">Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan S,
|
||
Li X,
|
||
Li L,
|
||
Lin H,
|
||
Wang D,
|
||
Zhang X,
|
||
Zhao X,
|
||
Ye J,
|
||
Huang Z,
|
||
Lin Y,
|
||
Duan Y,
|
||
Ma R,
|
||
Gao L,
|
||
Wang C,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 Apr;87:69-74.
|
||
Epub 2021 Feb 23
|
||
doi: 10.1016/j.seizure.2021.02.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33721773" target="_blank">33721773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21782476">Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaves J,
|
||
Beirão I,
|
||
Balreira A,
|
||
Gaspar P,
|
||
Caiola D,
|
||
Sá-Miranda MC,
|
||
Lima JL</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2011 Nov;20(9):738-40.
|
||
Epub 2011 Jul 22
|
||
doi: 10.1016/j.seizure.2011.06.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21782476" target="_blank">21782476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7822747">Inherited epilepsies of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchhalter JR</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1994 Oct;9 Suppl 1:S12-9.
|
||
doi: 10.1177/0883073894009001041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7822747" target="_blank">7822747</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20myoclonic%20epilepsy%20type%209%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38135787">CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gumusgoz E,
|
||
Kasiri S,
|
||
Verma M,
|
||
Wu J,
|
||
Villarreal Acha D,
|
||
Marriam U,
|
||
Fyffe-Maricich S,
|
||
Lin A,
|
||
Chen X,
|
||
Gray SJ,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2024 May;31(5-6):234-241.
|
||
Epub 2023 Dec 22
|
||
doi: 10.1038/s41434-023-00433-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38135787" target="_blank">38135787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37536959">Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogt H,
|
||
Baisch T,
|
||
Mueller-Pfeiffer C,
|
||
Mothersill IW</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2023 Jun;25(3):297-308.
|
||
Epub 2023 May 22
|
||
doi: 10.1002/epd2.20017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37536959" target="_blank">37536959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34399803">Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
|
||
Muccioli L,
|
||
Licchetta L,
|
||
Mostacci B,
|
||
Zenesini C,
|
||
Tinuper P,
|
||
Vignatelli L,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Aug 16;16(1):362.
|
||
doi: 10.1186/s13023-021-01989-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399803" target="_blank">34399803</a><a href="/pmc/articles/PMC8365996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28380698">Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliver KL,
|
||
Franceschetti S,
|
||
Milligan CJ,
|
||
Muona M,
|
||
Mandelstam SA,
|
||
Canafoglia L,
|
||
Boguszewska-Chachulska AM,
|
||
Korczyn AD,
|
||
Bisulli F,
|
||
Di Bonaventura C,
|
||
Ragona F,
|
||
Michelucci R,
|
||
Ben-Zeev B,
|
||
Straussberg R,
|
||
Panzica F,
|
||
Massano J,
|
||
Friedman D,
|
||
Crespel A,
|
||
Engelsen BA,
|
||
Andermann F,
|
||
Andermann E,
|
||
Spodar K,
|
||
Lasek-Bal A,
|
||
Riguzzi P,
|
||
Pasini E,
|
||
Tinuper P,
|
||
Licchetta L,
|
||
Gardella E,
|
||
Lindenau M,
|
||
Wulf A,
|
||
Møller RS,
|
||
Benninger F,
|
||
Afawi Z,
|
||
Rubboli G,
|
||
Reid CA,
|
||
Maljevic S,
|
||
Lerche H,
|
||
Lehesjoki AE,
|
||
Petrou S,
|
||
Berkovic SF</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2017 May;81(5):677-689.
|
||
doi: 10.1002/ana.24929.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28380698" target="_blank">28380698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21782476">Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaves J,
|
||
Beirão I,
|
||
Balreira A,
|
||
Gaspar P,
|
||
Caiola D,
|
||
Sá-Miranda MC,
|
||
Lima JL</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2011 Nov;20(9):738-40.
|
||
Epub 2011 Jul 22
|
||
doi: 10.1016/j.seizure.2011.06.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21782476" target="_blank">21782476</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20myoclonic%20epilepsy%20type%209%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div></div>
|
||
</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/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/34399803">Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
|
||
Muccioli L,
|
||
Licchetta L,
|
||
Mostacci B,
|
||
Zenesini C,
|
||
Tinuper P,
|
||
Vignatelli L,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Aug 16;16(1):362.
|
||
doi: 10.1186/s13023-021-01989-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399803" target="_blank">34399803</a><a href="/pmc/articles/PMC8365996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20myoclonic%20epilepsy%20type%209%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225289%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225289%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225289%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225289%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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||
</ul></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616540" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=457265" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Progressive%20myoclonic%20epilepsy%20type%209" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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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=(progressive%20myoclonic%20epilepsy%20type%209)%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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|
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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=150341" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=84823[geneid]" target="_blank">View LMNB2 variations in ClinVar</a></li><li><a href="/nuccore/196114940" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616540" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epilepsy_progressive_myoclonic_9" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Progressive%20myoclonic%20epilepsy%20type%209" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17801/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Reviews</h3>
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||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Progressive%20myoclonic%20epilepsy%20type%209" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Progressive%20myoclonic%20epilepsy%20type%209%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
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||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=901242" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=901242" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225289[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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