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<meta name="keywords" content="C0751783, disease or syndrome, epilepsy progressive myoclonic 2, epilepsy progressive myoclonic 2, epilepsy, progressive myoclonic 2a, epilepsy, progressive myoclonic 2a (lafora), epilepsy, progressive myoclonic 2b (lafora), epilepsy, progressive myoclonic, 2a, epilepsy, progressive myoclonic, 2b, epilepsy, progressive myoclonic, lafora, epm2, lafora body disease, lafora body disorder, lafora disease, lafora myoclonic epilepsy, lafora progressive myoclonic epilepsy, lafora progressive myoclonus epilepsy, lafora type progressive myoclonic epilepsy, lafora's disease, melf, myoclonic epilepsy of lafora, pme type 2, progressive myoclonic epilepsy type 2, progressive myoclonic epilepsy, lafora, progressive myoclonic epilepsy, lafora type, progressive myoclonus epilepsy type 2, progressive myoclonus epilepsy, lafora type, 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 myoclonus epilepsy, Lafora type (also known as Lafora disease) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus occurring in previously healthy individuals. Typical age of onset is eight to 19 years (peak: age14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic seizures, and focal seizures with impaired awareness may also occur. The course of the disease is characterized by increasing frequency and intractability of seizures. Status epilepticus with any of the seizure types is common. Cognitive decline becomes apparent at or soon after the onset of seizures. Dysarthria and ataxia appear early, while spasticity appears late. Emotional disturbances and confusion are common in the early stages of the disease and are followed by dementia. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to neurologic degeneration." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=155631
|
||
ConceptID=C0751783
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lafora disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155631</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.">C0751783</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 2; Lafora body disorder; Myoclonic epilepsy of Lafora; Progressive Myoclonus Epilepsy, Lafora Type</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Lafora disease (230425004); Lafora body disease (230425004)</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" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/378884">NHLRC1</a>, <a target="_blank" href="/gene/7957">EPM2A</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009697" target="_blank">MONDO:0009697</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS254780" target="_blank">PS254780</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=501">ORPHA501</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1389" target="_blank">Progressive Myoclonus Epilepsy, Lafora Type</a></div><div>Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus occurring in previously healthy individuals. Typical age of onset is eight to 19 years (peak: age14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic seizures, and focal seizures with impaired awareness may also occur. The course of the disease is characterized by increasing frequency and intractability of seizures. Status epilepticus with any of the seizure types is common. Cognitive decline becomes apparent at or soon after the onset of seizures. Dysarthria and ataxia appear early, while spasticity appears late. Emotional disturbances and confusion are common in the early stages of the disease and are followed by dementia. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to neurologic degeneration. [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/NBK1389#lafora.Summary" target="NBK1389">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Diagnosis" target="NBK1389">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Clinical_Characteristics" target="NBK1389">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Genetically_Related_Allelic_Disor" target="NBK1389">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Differential_Diagnosis" target="NBK1389">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Management" target="NBK1389">Management</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Genetic_Counseling" target="NBK1389">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Resources" target="NBK1389">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Molecular_Genetics" target="NBK1389">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.Chapter_Notes" target="NBK1389">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1389#lafora.References" target="NBK1389">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Berge Minassian <a href="/books/NBK1389" target="NBK1389" title="NCBI Bookshelf: Progressive Myoclonus Epilepsy, Lafora Type">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 />The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). Patients with Lafora disease-2 (620681) have a slightly slower progression of disease and later age at death (see Genotype/Phenotype Correlations).
|
||
Genetic Heterogeneity of Lafora Disease
|
||
Myoclonic epilepsy of Lafora-2 (MELF2, EPM2B; 620681) is caused by mutation in the NHLRC1 gene (608072), which encodes malin, on chromosome 6p22.
|
||
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). <a target="_blank" href="http://www.omim.org/entry/254780">http://www.omim.org/entry/254780</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.<br /><br />Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body.<br /><br />Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes.<br /><br />About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition worsens, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear. <a target="_blank" href="https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy">https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy</a></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>
|
||
<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="matched_ds"><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">Lafora disease</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="TLclosed"><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"><a href="/medgen/155923" ref="tree=GTR&ncbi_uid=155923&link_uid=155923" title="View MedGen record for 'Unverricht-Lundborg syndrome'">Unverricht-Lundborg syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/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">Lafora disease</span><ul><li><span class="TLline"><a href="/medgen/1844054" ref="tree=MeSH" title="MedGen record for Myoclonic epilepsy of Lafora 1">Myoclonic epilepsy of Lafora 1</a></span></li><li><span class="TLline"><a href="/medgen/340621" ref="tree=MeSH" title="MedGen record for Myoclonic epilepsy of Lafora 2">Myoclonic epilepsy of Lafora 2</a></span></li></ul></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=117&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Lafora disease</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/38036198">Sodium-glucose cotransporter-2 inhibitors: A potential novel treatment for Lafora disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imbrici P,
|
||
d'Orsi G,
|
||
Carella M,
|
||
Nicolotti O,
|
||
De Luca A,
|
||
Altomare CD,
|
||
Liantonio A</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Res</span>
|
||
2024 Jan;199:107012.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1016/j.phrs.2023.107012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38036198" target="_blank">38036198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30143794">Lafora disease - from pathogenesis to treatment strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke F,
|
||
Ahonen SJ,
|
||
Nitschke S,
|
||
Mitra S,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2018 Oct;14(10):606-617.
|
||
doi: 10.1038/s41582-018-0057-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30143794" target="_blank">30143794</a><a href="/pmc/articles/PMC6317072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30027899">Lafora disease: from genotype to phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parihar R,
|
||
Rai A,
|
||
Ganesh S</span><br />
|
||
<span class="medgenPMjournal">J Genet</span>
|
||
2018 Jul;97(3):611-624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30027899" target="_blank">30027899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lafora%20disease%22%5Btiab%3A~0%5D)%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 (10)</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/38397161">Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmern V,
|
||
Minassian B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Jan 27;15(2)
|
||
doi: 10.3390/genes15020171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38397161" target="_blank">38397161</a><a href="/pmc/articles/PMC10888128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31787497">Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farah BL,
|
||
Yen PM,
|
||
Koeberl DD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Jan;129(1):3-12.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/j.ymgme.2019.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31787497" target="_blank">31787497</a><a href="/pmc/articles/PMC7836271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
|
||
Valetto A,
|
||
Bertini V,
|
||
Esposito M,
|
||
Carli N,
|
||
Minassian BA,
|
||
Bonuccelli A,
|
||
Peroni D,
|
||
Michelucci R,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Oct;71:247-257.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1016/j.seizure.2019.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476531" target="_blank">31476531</a><a href="/pmc/articles/PMC7288863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27702709">Lafora disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turnbull J,
|
||
Tiberia E,
|
||
Striano P,
|
||
Genton P,
|
||
Carpenter S,
|
||
Ackerley CA,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2016 Sep 1;18(S2):38-62.
|
||
doi: 10.1684/epd.2016.0842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27702709" target="_blank">27702709</a><a href="/pmc/articles/PMC5777303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lafora%20disease%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 (57)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38397161">Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmern V,
|
||
Minassian B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Jan 27;15(2)
|
||
doi: 10.3390/genes15020171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38397161" target="_blank">38397161</a><a href="/pmc/articles/PMC10888128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
|
||
Valetto A,
|
||
Bertini V,
|
||
Esposito M,
|
||
Carli N,
|
||
Minassian BA,
|
||
Bonuccelli A,
|
||
Peroni D,
|
||
Michelucci R,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Oct;71:247-257.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1016/j.seizure.2019.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476531" target="_blank">31476531</a><a href="/pmc/articles/PMC7288863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27702709">Lafora disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turnbull J,
|
||
Tiberia E,
|
||
Striano P,
|
||
Genton P,
|
||
Carpenter S,
|
||
Ackerley CA,
|
||
Minassian BA</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2016 Sep 1;18(S2):38-62.
|
||
doi: 10.1684/epd.2016.0842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27702709" target="_blank">27702709</a><a href="/pmc/articles/PMC5777303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23383614">Storage diseases: diagnostic position.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
|
||
Müller HD</span><br />
|
||
<span class="medgenPMjournal">Ultrastruct Pathol</span>
|
||
2013 Feb;37(1):19-22.
|
||
doi: 10.3109/01913123.2012.670060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23383614" target="_blank">23383614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11439374">Muscle glycogenoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMauro S,
|
||
Lamperti C</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
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2001 Aug;24(8):984-99.
|
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doi: 10.1002/mus.1103.
|
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<span class="bold">PMID: </span><a href="/pubmed/11439374" target="_blank">11439374</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lafora%20disease%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 (142)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38796707">Gene therapy for Lafora disease in the Epm2a(-/-) mouse model.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zafra-Puerta L,
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Iglesias-Cabeza N,
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Burgos DF,
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Sciaccaluga M,
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González-Fernández J,
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Bellingacci L,
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Canonichesi J,
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Sánchez-Martín G,
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Costa C,
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Sánchez MP,
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Serratosa JM</span><br />
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<span class="medgenPMjournal">Mol Ther</span>
|
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2024 Jul 3;32(7):2130-2149.
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Epub 2024 May 24
|
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doi: 10.1016/j.ymthe.2024.05.032.
|
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<span class="bold">PMID: </span><a href="/pubmed/38796707" target="_blank">38796707</a><a href="/pmc/articles/PMC11286821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37700152">Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Donohue KJ,
|
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Fitzsimmons B,
|
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Bruntz RC,
|
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Markussen KH,
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Young LEA,
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Clarke HA,
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Coburn PT,
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Griffith LE,
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Sanders W,
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Klier J,
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Burke SN,
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Maurer AP,
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Minassian BA,
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Sun RC,
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Kordasiewisz HB,
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Gentry MS</span><br />
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<span class="medgenPMjournal">Neurotherapeutics</span>
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2023 Oct;20(6):1808-1819.
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Epub 2023 Sep 12
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<span class="bold">PMID: </span><a href="/pubmed/37700152" target="_blank">37700152</a><a href="/pmc/articles/PMC10684475" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34069559">Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sanz P,
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Serratosa JM,
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Sánchez MP</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 May 19;22(10)
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doi: 10.3390/ijms22105351.
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<span class="bold">PMID: </span><a href="/pubmed/34069559" target="_blank">34069559</a><a href="/pmc/articles/PMC8160983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/33277415">Pearls & Oy-sters: When Genetic Generalized Epilepsy Becomes Progressive.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Purushothaman P,
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McGinnis EM,
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Aldulescu M,
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Stack CV,
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Gertler TS</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2021 Mar 2;96(9):454-457.
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Epub 2020 Dec 4
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<span class="bold">PMID: </span><a href="/pubmed/33277415" target="_blank">33277415</a><a href="/pmc/articles/PMC8055328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30143794">Lafora disease - from pathogenesis to treatment strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke F,
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Ahonen SJ,
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Nitschke S,
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Mitra S,
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Minassian BA</span><br />
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<span class="medgenPMjournal">Nat Rev Neurol</span>
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2018 Oct;14(10):606-617.
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<span class="bold">PMID: </span><a href="/pubmed/30143794" target="_blank">30143794</a><a href="/pmc/articles/PMC6317072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lafora%20disease%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38397161">Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zimmern V,
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Minassian B</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2024 Jan 27;15(2)
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doi: 10.3390/genes15020171.
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<span class="bold">PMID: </span><a href="/pubmed/38397161" target="_blank">38397161</a><a href="/pmc/articles/PMC10888128" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476531">The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Orsini A,
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Valetto A,
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Bertini V,
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Esposito M,
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Carli N,
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Minassian BA,
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Bonuccelli A,
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Peroni D,
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<span class="medgenPMjournal">Seizure</span>
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2019 Oct;71:247-257.
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Epub 2019 Aug 23
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doi: 10.1016/j.seizure.2019.08.012.
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<span class="bold">PMID: </span><a href="/pubmed/31476531" target="_blank">31476531</a><a href="/pmc/articles/PMC7288863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27702709">Lafora disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Turnbull J,
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Tiberia E,
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Striano P,
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Genton P,
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Carpenter S,
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Ackerley CA,
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2016 Sep 1;18(S2):38-62.
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<span class="bold">PMID: </span><a href="/pubmed/27702709" target="_blank">27702709</a><a href="/pmc/articles/PMC5777303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26060909">Progressive Myoclonus Epilepsies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kälviäinen R</span><br />
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<span class="medgenPMjournal">Semin Neurol</span>
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2015 Jun;35(3):293-9.
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Epub 2015 Jun 10
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doi: 10.1055/s-0035-1552620.
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<span class="bold">PMID: </span><a href="/pubmed/26060909" target="_blank">26060909</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23383614">Storage diseases: diagnostic position.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
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<span class="medgenPMjournal">Ultrastruct Pathol</span>
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2013 Feb;37(1):19-22.
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<span class="bold">PMID: </span><a href="/pubmed/23383614" target="_blank">23383614</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lafora%20disease%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 (62)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37554056">The multifaceted roles of the brain glycogen.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Markussen KH,
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Corti M,
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Byrne BJ,
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Vander Kooi CW,
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Sun RC,
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Gentry MS</span><br />
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<span class="medgenPMjournal">J Neurochem</span>
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2024 May;168(5):728-743.
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Epub 2023 Aug 9
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doi: 10.1111/jnc.15926.
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<span class="bold">PMID: </span><a href="/pubmed/37554056" target="_blank">37554056</a><a href="/pmc/articles/PMC10901277" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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Licchetta L,
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Mostacci B,
|
||
Zenesini C,
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Tinuper P,
|
||
Vignatelli L,
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Bisulli F</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2021 Aug 16;16(1):362.
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doi: 10.1186/s13023-021-01989-w.
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<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/32949474">Interrater agreement of classification of photoparoxysmal electroencephalographic response.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beniczky S,
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Aurlien H,
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Franceschetti S,
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Martins da Silva A,
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Bisulli F,
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Bentes C,
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Canafoglia L,
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Ferri L,
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Krýsl D,
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Rita Peralta A,
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Rácz A,
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Cross JH,
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Arzimanoglou A</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2020 Sep;61(9):e124-e128.
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||
Epub 2020 Sep 19
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doi: 10.1111/epi.16655.
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<span class="bold">PMID: </span><a href="/pubmed/32949474" target="_blank">32949474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23383614">Storage diseases: diagnostic position.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
|
||
Müller HD</span><br />
|
||
<span class="medgenPMjournal">Ultrastruct Pathol</span>
|
||
2013 Feb;37(1):19-22.
|
||
doi: 10.3109/01913123.2012.670060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23383614" target="_blank">23383614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21482188">Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polajnar M,
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Zerovnik E</span><br />
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<span class="medgenPMjournal">Trends Mol Med</span>
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2011 Jun;17(6):293-300.
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Epub 2011 Apr 7
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doi: 10.1016/j.molmed.2011.02.005.
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<span class="bold">PMID: </span><a href="/pubmed/21482188" target="_blank">21482188</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lafora%20disease%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 (61)</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/37658439">Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
|
||
Minardi R,
|
||
Muccioli L,
|
||
Zenesini C,
|
||
Vignatelli L,
|
||
Licchetta L,
|
||
Mostacci B,
|
||
Tinuper P,
|
||
Vander Kooi CW,
|
||
Gentry MS,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Sep 2;18(1):263.
|
||
doi: 10.1186/s13023-023-02880-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37658439" target="_blank">37658439</a><a href="/pmc/articles/PMC10474773" target="_blank" class="PubMedFree">Free PMC Article</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/31858178">FDG-PET assessment and metabolic patterns in Lafora disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muccioli L,
|
||
Farolfi A,
|
||
Pondrelli F,
|
||
d'Orsi G,
|
||
Michelucci R,
|
||
Freri E,
|
||
Canafoglia L,
|
||
Licchetta L,
|
||
Toni F,
|
||
Bonfiglioli R,
|
||
Civollani S,
|
||
Pettinato C,
|
||
Maietti E,
|
||
Marotta G,
|
||
Fanti S,
|
||
Tinuper P,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Eur J Nucl Med Mol Imaging</span>
|
||
2020 Jun;47(6):1576-1584.
|
||
Epub 2019 Dec 19
|
||
doi: 10.1007/s00259-019-04647-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31858178" target="_blank">31858178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lafora%20disease%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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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 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=C0751783%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751783%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751783%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (45)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751783%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751783%5bDISCUI%5d" target="_blank">See all (49)</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/phenotypicSeries/PS254780" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=501" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lafora%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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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=(%22lafora%20disease%22%5Btiab%3A~0%5D)%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_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="http://www.diseaseinfosearch.org/Lafora+disease/4074" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/myoclonic_epilepsy_of_lafora_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lafora%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8214/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301563" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Lafora%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<div class="ralinkpop offscreen_noflow">RecName: Full=Prickle-like protein 1; AltName: Full=REST/NRSF-interacting LIM domain protein 1; Flags: Precursor<div class="brieflinkpopdesc">gi|59800163|sp|Q96MT3.2|PRIC1_HUMAN</div></div>
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