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<!--
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UID=155923
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ConceptID=C0751785
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Unverricht-Lundborg syndrome<span class="h1sub">(EPM1; PME; EPM1A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155923</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.">C0751785</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 1A (Unverricht and Lundborg); Epilepsy, progressive myoclonic type 1; EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of unverricht and lundborg; Myoclonus progressive epilepsy of Unverricht and Lundborg; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Unverricht-Lundborg Disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Unverricht-Lundborg syndrome (230423006); Unverricht-Lundborg disease (230423006); Baltic myoclonus epilepsy (230423006)</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="CSTB - ID: 1476 - NCBI Gene" href="/gene/1476" class="medgenPMinfo">CSTB</a> (21q22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009698" target="_blank">MONDO:0009698</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/254800" target="_blank">254800</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=308">ORPHA308</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1142" target="_blank">Progressive Myoclonic Epilepsy Type 1</a></div><div>Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1142#epm1.Summary" target="NBK1142">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Diagnosis" target="NBK1142">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Clinical_Characteristics" target="NBK1142">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Genetically_Related_Allelic_Disorde" target="NBK1142">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Differential_Diagnosis" target="NBK1142">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Management" target="NBK1142">Management</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Genetic_Counseling" target="NBK1142">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Resources" target="NBK1142">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Molecular_Genetics" target="NBK1142">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.Chapter_Notes" target="NBK1142">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1142#epm1.References" target="NBK1142">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Anna-Elina Lehesjoki | Reetta Kälviäinen <a href="/books/NBK1142" target="NBK1142" title="NCBI Bookshelf: Progressive Myoclonic Epilepsy Type 1">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Myoclonic epilepsy of Unverricht and Lundborg, also known as progressive myoclonic epilepsy-1A (EPM1A), is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that it appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline (summary by Ramachandran et al., 2009).
|
||
Genetic Heterogeneity of Progressive Myoclonic Epilepsy
|
||
Progressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. See also EPM1B (612437), caused by mutation in the PRICKLE1 gene (608500); Lafora disease-1 (EPM2A; 254780), caused by mutation in the EPM2A gene (607566); Lafora disease-2 (EPM2B; 620681), caused by mutation in the NHLRC1 (608072) gene; EPM3 (611726), caused by mutation in the KCTD7 gene (611725); EPM4 (254900), caused by mutation in the SCARB2 gene (602257); EPM6 (614018), caused by mutation in the GOSR2 gene (604027); EPM7 (616187), caused by mutation in the KCNC1 gene (176258); EPM8 (616230), caused by mutation in the CERS1 gene (606919); EPM9 (616540), caused by mutation in the LMNB2 gene (150341); EPM10 (616640), caused by mutation in the PRDM8 gene (616639); EPM11 (618876), caused by mutation in the SEMA6B gene (608873); and EPM12 (619191), caused by mutation in the SLC7A6OS gene (619192).
|
||
A form of progressive myoclonic epilepsy, formerly designated EPM5, is included in 607459 with the primary designation of spinocerebellar ataxia with epilepsy (SCAE).
|
||
Other disorders characterized by progressive myoclonic epilepsy include the neuronal ceroid lipofuscinoses (see, e.g., CLN1 (256730); sialidosis (256550); MERFF (545000); and DRPLA (125370), among others (reviews by Ramachandran et al., 2009 and de Siqueira, 2010).) <a target="_blank" href="http://www.omim.org/entry/254800">http://www.omim.org/entry/254800</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Progressive myoclonic epilepsy type 1 (also called Unverricht-Lundborg disease or ULD) is a rare inherited form of epilepsy. Early development is normal in affected individuals. Signs and symptoms of the disorder typically begin between 6 and 15 years of age.<br /><br /> People with progressive myoclonic epilepsy type 1 experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities.<br /><br />Affected individuals also usually have seizures that involve loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years. However, the seizures may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease.<br /><br />Eventually, people with progressive myoclonic epilepsy type 1 may develop problems with balance and coordination (ataxia) and speaking (dysarthria). They may also experience depression. Another feature of this condition is involuntary rhythmic shaking. This shaking is called intentional tremor because it worsens during intentional movements.<br /><br />People with progressive myoclonic epilepsy type 1 may live into adulthood. Life expectancy depends on the severity of the condition and a person's response to treatment. The severity of the condition can vary, even among members of the same family. <a target="_blank" href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1">https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1</a></div></div>
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</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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<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>
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<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>
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<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>
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||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
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<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>
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<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
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||
<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>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_867392"><div><strong>EEG with polyspike wave complexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867392</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.">C4021757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of complexes of repetitive spikes and waves in EEG.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/867392">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20polyspike%20wave%20complexes%22%5BClinical%20Features%5D%20OR%20867392%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_869073"><div><strong>Interictal epileptiform activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869073</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.">C4023491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/869073">Feature record</a> | <a href="/medgen?term=%22Interictal%20epileptiform%20activity%22%5BClinical%20Features%5D%20OR%20869073%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_869259"><div><strong>EEG with spike-wave complexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869259</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.">C4023683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/869259">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20spike-wave%20complexes%22%5BClinical%20Features%5D%20OR%20869259%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385688"><div><strong>Generalized non-motor (absence) seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385688</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.">C4316903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385688">Feature record</a> | <a href="/medgen?term=%22Generalized%20non-motor%20(absence)%20seizure%22%5BClinical%20Features%5D%20OR%201385688%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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||
<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">
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||
<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_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with polyspike wave complexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with spike-wave complexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized non-motor (absence) seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interictal epileptiform activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</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>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751778[DISCUI]&test_type=Clinical" ref="ncbi_uid=199732">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=199732" target="_blank" href="/omim/310370">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=199732" ref="ncbi_uid=199732">V</a></span></span><span class="TLline"><a href="/medgen/199732" ref="tree=GTR&ncbi_uid=199732&link_uid=199732" title="View MedGen record for 'Progressive myoclonic epilepsy'">Progressive myoclonic epilepsy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676254[DISCUI]&test_type=Clinical" ref="ncbi_uid=394003">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394003" target="_blank" href="/omim/608500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9674/" ref="ncbi_uid=394003">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394003" ref="ncbi_uid=394003">V</a></span></span><span class="TLline"><a href="/medgen/394003" ref="tree=GTR&ncbi_uid=394003&link_uid=394003" title="View MedGen record for 'Epilepsy, progressive myoclonic, 1B'">Epilepsy, progressive myoclonic, 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751783[DISCUI]&test_type=Clinical" ref="ncbi_uid=155631">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1389/" ref="ncbi_uid=155631">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155631" ref="ncbi_uid=155631">V</a></span></span><span class="TLline"><a href="/medgen/155631" ref="tree=GTR&ncbi_uid=155631&link_uid=155631" title="View MedGen record for 'Lafora disease'">Lafora disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848203[DISCUI]&test_type=Clinical" ref="ncbi_uid=1844054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1844054" target="_blank" href="/omim/254780">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1389/" ref="ncbi_uid=1844054">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1844054" ref="ncbi_uid=1844054">V</a></span></span><span class="TLline"><a href="/medgen/1844054" ref="tree=GTR&ncbi_uid=1844054&link_uid=1844054" title="View MedGen record for 'Myoclonic epilepsy of Lafora 1'">Myoclonic epilepsy of Lafora 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850764[DISCUI]&test_type=Clinical" ref="ncbi_uid=340621">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340621" target="_blank" href="/omim/608072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1389/" ref="ncbi_uid=340621">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340621" ref="ncbi_uid=340621">V</a></span></span><span class="TLline"><a href="/medgen/340621" ref="tree=GTR&ncbi_uid=340621&link_uid=340621" title="View MedGen record for 'Myoclonic epilepsy of Lafora 2'">Myoclonic epilepsy of Lafora 2</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751785[DISCUI]&test_type=Clinical" ref="ncbi_uid=155923">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155923" target="_blank" href="/omim/254800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1142/" ref="ncbi_uid=155923">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155923" ref="ncbi_uid=155923">V</a></span></span><span class="TLline">Unverricht-Lundborg syndrome</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><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/101195" ref="tree=MeSH" title="MedGen record for Degenerative Disease of Nervous System, Unspecified">Degenerative Disease of Nervous System, Unspecified</a></span><ul><li><span class="TLline"><a href="/medgen/155945" ref="tree=MeSH" title="MedGen record for Heredodegenerative Disorders, Nervous System">Heredodegenerative Disorders, Nervous System</a></span><ul><li><span class="matched_ds">Unverricht-Lundborg syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=294&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Unverricht-Lundborg syndrome</span> in Orphanet.</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 class="nl"><a target="_blank" href="/pubmed/30999254">Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lasek-Bal A,
|
||
Lukasik M,
|
||
Żak A,
|
||
Sulek A,
|
||
Bosak M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:87-91.
|
||
Epub 2019 Apr 10
|
||
doi: 10.1016/j.seizure.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30999254" target="_blank">30999254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1293989">Progressive myoclonus epilepsies. Criteria for diagnosis on the basis of the follow-up of 37 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guazzi GC,
|
||
Federico A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol (Napoli)</span>
|
||
1992 Aug-Dec;14(4-6):469-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1293989" target="_blank">1293989</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(unverricht-lundborg%20syndrome)%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 (4)</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/22946725">Complex single gene disorders and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merwick A,
|
||
O'Brien M,
|
||
Delanty N</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2012 Sep;53 Suppl 4:81-91.
|
||
doi: 10.1111/j.1528-1167.2012.03617.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22946725" target="_blank">22946725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19469843">The autosomal recessively inherited progressive myoclonus epilepsies and their genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramachandran N,
|
||
Girard JM,
|
||
Turnbull J,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2009 May;50 Suppl 5:29-36.
|
||
doi: 10.1111/j.1528-1167.2009.02117.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19469843" target="_blank">19469843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19469842">Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubboli G,
|
||
Gardella E,
|
||
Capovilla G</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2009 May;50 Suppl 5:24-8.
|
||
doi: 10.1111/j.1528-1167.2009.02116.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19469842" target="_blank">19469842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15778103">Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahwan A,
|
||
Farrell M,
|
||
Delanty N</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2005 Apr;4(4):239-48.
|
||
doi: 10.1016/S1474-4422(05)70043-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15778103" target="_blank">15778103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8848969">Epileptic negative myoclonus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tassinari CA,
|
||
Rubboli G,
|
||
Parmeggiani L,
|
||
Valzania F,
|
||
Plasmati R,
|
||
Riguzzi P,
|
||
Michelucci R,
|
||
Volpi L,
|
||
Passarelli D,
|
||
Meletti S</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
1995;67:181-97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8848969" target="_blank">8848969</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unverricht-Lundborg%20syndrome%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 (47)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37951142">Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
|
||
Plotnikova L,
|
||
Karvonen K,
|
||
Ryytty S,
|
||
Hyppönen J,
|
||
Kälviäinen R,
|
||
Hämäläinen RH</span><br />
|
||
<span class="medgenPMjournal">Stem Cell Res</span>
|
||
2023 Dec;73:103248.
|
||
Epub 2023 Nov 7
|
||
doi: 10.1016/j.scr.2023.103248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37951142" target="_blank">37951142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29978618">First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim KH,
|
||
Song JS,
|
||
Park CW,
|
||
Ki CS,
|
||
Heo K</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
2018 Aug;59(6):798-800.
|
||
doi: 10.3349/ymj.2018.59.6.798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29978618" target="_blank">29978618</a><a href="/pmc/articles/PMC6037595" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15778103">Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahwan A,
|
||
Farrell M,
|
||
Delanty N</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2005 Apr;4(4):239-48.
|
||
doi: 10.1016/S1474-4422(05)70043-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15778103" target="_blank">15778103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15329070">Univerricht-Lundborg disease: underdiagnosed in the Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Haan GJ,
|
||
Halley DJ,
|
||
Doelman JC,
|
||
Geesink HH,
|
||
Augustijn PB,
|
||
Jager-Jongkind AD,
|
||
Majoie M,
|
||
Bader AJ,
|
||
Leliefeld-Ten Doeschate LA,
|
||
Deelen WH,
|
||
Bertram E,
|
||
Lehesjoki AE,
|
||
Lindhout D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2004 Sep;45(9):1061-3.
|
||
doi: 10.1111/j.0013-9580.2004.43703.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15329070" target="_blank">15329070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8848969">Epileptic negative myoclonus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tassinari CA,
|
||
Rubboli G,
|
||
Parmeggiani L,
|
||
Valzania F,
|
||
Plasmati R,
|
||
Riguzzi P,
|
||
Michelucci R,
|
||
Volpi L,
|
||
Passarelli D,
|
||
Meletti S</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
1995;67:181-97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8848969" target="_blank">8848969</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unverricht-Lundborg%20syndrome%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 (61)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20331711">Unverricht-Lundborg disease (EPM1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genton P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2010 Feb;51 Suppl 1:37-9.
|
||
doi: 10.1111/j.1528-1167.2009.02441.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20331711" target="_blank">20331711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18325013">Clinical picture of EPM1-Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kälviäinen R,
|
||
Khyuppenen J,
|
||
Koskenkorva P,
|
||
Eriksson K,
|
||
Vanninen R,
|
||
Mervaala E</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Apr;49(4):549-56.
|
||
Epub 2008 Mar 5
|
||
doi: 10.1111/j.1528-1167.2008.01546.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18325013" target="_blank">18325013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16930946">Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrade DM,
|
||
Scherer SW,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2006 Nov;72(1):75-9.
|
||
Epub 2006 Aug 22
|
||
doi: 10.1016/j.eplepsyres.2006.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16930946" target="_blank">16930946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15329070">Univerricht-Lundborg disease: underdiagnosed in the Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Haan GJ,
|
||
Halley DJ,
|
||
Doelman JC,
|
||
Geesink HH,
|
||
Augustijn PB,
|
||
Jager-Jongkind AD,
|
||
Majoie M,
|
||
Bader AJ,
|
||
Leliefeld-Ten Doeschate LA,
|
||
Deelen WH,
|
||
Bertram E,
|
||
Lehesjoki AE,
|
||
Lindhout D</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2004 Sep;45(9):1061-3.
|
||
doi: 10.1111/j.0013-9580.2004.43703.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15329070" target="_blank">15329070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11968445">Clinical features and genetics of Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehesjoki AE</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
2002;89:193-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11968445" target="_blank">11968445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unverricht-Lundborg%20syndrome%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 (33)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36735458">Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acharya JN,
|
||
Acharya VJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2023 Feb 1;40(2):100-108.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1097/WNP.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36735458" target="_blank">36735458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30999254">Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lasek-Bal A,
|
||
Lukasik M,
|
||
Żak A,
|
||
Sulek A,
|
||
Bosak M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:87-91.
|
||
Epub 2019 Apr 10
|
||
doi: 10.1016/j.seizure.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30999254" target="_blank">30999254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19499178">Death in Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khiari HM,
|
||
Franceschetti S,
|
||
Jovic N,
|
||
Mrabet A,
|
||
Genton P</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2009 Aug;30(4):315-8.
|
||
Epub 2009 Jun 5
|
||
doi: 10.1007/s10072-009-0102-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19499178" target="_blank">19499178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18325013">Clinical picture of EPM1-Unverricht-Lundborg disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kälviäinen R,
|
||
Khyuppenen J,
|
||
Koskenkorva P,
|
||
Eriksson K,
|
||
Vanninen R,
|
||
Mervaala E</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Apr;49(4):549-56.
|
||
Epub 2008 Mar 5
|
||
doi: 10.1111/j.1528-1167.2008.01546.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18325013" target="_blank">18325013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15778103">Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahwan A,
|
||
Farrell M,
|
||
Delanty N</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2005 Apr;4(4):239-48.
|
||
doi: 10.1016/S1474-4422(05)70043-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15778103" target="_blank">15778103</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unverricht-Lundborg%20syndrome%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 (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37952446">Detecting negative myoclonus during long-term home measurements using wearables.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinokki A,
|
||
Säisänen L,
|
||
Hyppönen J,
|
||
Silvennoinen K,
|
||
Kälviäinen R,
|
||
Mervaala E,
|
||
Karjalainen PA,
|
||
Rissanen SM</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2023 Dec;156:166-174.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1016/j.clinph.2023.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37952446" target="_blank">37952446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36735458">Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acharya JN,
|
||
Acharya VJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2023 Feb 1;40(2):100-108.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1097/WNP.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36735458" target="_blank">36735458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36097839">Comorbidities in patients with Unverricht-Lundborg disease (EPM1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sipilä JOT,
|
||
Kälviäinen R</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2022 Nov;146(5):690-693.
|
||
Epub 2022 Sep 13
|
||
doi: 10.1111/ane.13706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36097839" target="_blank">36097839</a><a href="/pmc/articles/PMC9826374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31225807">Selective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">di Giacopo A,
|
||
Baumann CR,
|
||
Kurthen M,
|
||
Capecchi F,
|
||
Sürücü O,
|
||
Imbach LL</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2019 Jun 1;21(3):283-288.
|
||
doi: 10.1684/epd.2019.1072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31225807" target="_blank">31225807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30999254">Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lasek-Bal A,
|
||
Lukasik M,
|
||
Żak A,
|
||
Sulek A,
|
||
Bosak M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:87-91.
|
||
Epub 2019 Apr 10
|
||
doi: 10.1016/j.seizure.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30999254" target="_blank">30999254</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unverricht-Lundborg%20syndrome%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 (35)</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unverricht-Lundborg%20syndrome%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 (1)</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>
|
||
|
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<!-- MedGen supplemental column starts here -->
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<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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<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751785%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751785%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751785%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751785%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751785%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751785%5bDISCUI%5d" target="_blank">See all (42)</a></total></li>
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||
</ul></div>
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||
</div>
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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=254800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=308" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Unverricht-Lundborg%20syndrome" 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=(unverricht-lundborg%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601145" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1476[geneid]" target="_blank">View CSTB variations in ClinVar</a></li><li><a href="/nuccore/224809510" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=254800" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
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|
||
|
||
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Myoclonus+progressive+epilepsy+of+Unverricht+and+Lundborg/5038" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/myoclonic_epilepsy_of_unverricht_and_lundborg" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Unverricht-Lundborg%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3876/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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||
<h3>Reviews</h3>
|
||
</div>
|
||
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<div class="portlet_content">
|
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<ul>
|
||
<li>
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||
<a href="/pubmed/20301321" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Unverricht-Lundborg%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Unverricht-Lundborg%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
<div class="portlet brieflink">
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||
<div class="portlet_head">
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||
<div class="portlet_title">
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||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=155923" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=155923" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0751785[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0751785[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=155923" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=155923" ref="log$=recordlinks">NCBI Bookshelf</a>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=155923" ref="log$=recordlinks">OMIM</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=155923" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=155923" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=155923" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=155923" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<h3>Recent activity</h3>
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Clear
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Turn Off
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4fba167c23b31e027b22a">Myoclonic epilepsy of Lafora 2</a>
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<div class="ralinkpop offscreen_noflow">Myoclonic epilepsy of Lafora 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d4fb9d67c23b31e027a497">Myoclonic epilepsy of Lafora 1</a>
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<div class="ralinkpop offscreen_noflow">Myoclonic epilepsy of Lafora 1<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d4fb99cde49f3df74ef131">Lafora disease</a>
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<div class="ralinkpop offscreen_noflow">Lafora disease<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d4fb9384f3725e59ad5a21">Progressive myoclonic epilepsy</a>
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<div class="ralinkpop offscreen_noflow">Progressive myoclonic epilepsy<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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