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<meta name="keywords" content="C1858854, disease or syndrome, hepacam, infantile leukoencephalopathy and megalencephaly, leukoencephalopathy with swelling and a discrepantly mild course, leukoencephalopathy with swelling and cysts, lvm, megalencephalic leukodystrophy, megalencephalic leukoencephalopathy with subcortical cysts, megalencephalic leukoencephalopathy with subcortical cysts 1, megalencephalic leukoencephalopathy with subcortical cysts type 1, megalencephaly-cystic leukodystrophy, megalencephaly-cystic leukodystrophy syndrome, mlc, mlc1, vacuolating leukoencephalopathy, vacuolating megalencephalic leukoencephalopathy with subcortical cysts, van der knaap disease, van der knaap syndrome, van der knapp disease, vl, 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="Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=347006
|
||
ConceptID=C1858854
|
||
-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1535/bin/mlc-Image001.gif" src-large="/books/NBK1535/bin/mlc-Image001.jpg" /></a><br /><a href="/books/NBK1535/figure/mlc.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Megalencephalic leukoencephalopathy with subcortical cysts</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1858854</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>VAN DER KNAAP DISEASE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Infantile leukoencephalopathy and megalencephaly (703536004); Megalencephalic leukoencephalopathy with subcortical cysts (703536004); Vacuolating leukoencephalopathy (703536004); Leukoencephalopathy with swelling and cysts (703536004); Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (703536004); Van der Knapp disease (703536004)</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="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the 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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant 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">Genes (locations):<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="HEPACAM - ID: 220296 - NCBI Gene" href="/gene/220296" class="medgenPMinfo">HEPACAM</a> (11q24.2); <a target="_blank" title="MLC1 - ID: 23209 - NCBI Gene" href="/gene/23209" class="medgenPMinfo">MLC1</a> (22q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011391" target="_blank">MONDO:0011391</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604004" target="_blank">604004</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=2478">ORPHA2478</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>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1535" target="_blank">Megalencephalic Leukoencephalopathy with Subcortical Cysts</a></div><div>Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC. [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/NBK1535#mlc.Summary" target="NBK1535">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.GeneReview_Scope" target="NBK1535">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Diagnosis" target="NBK1535">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Clinical_Characteristics" target="NBK1535">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Genetically_Related_Allelic_Disorder" target="NBK1535">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Differential_Diagnosis" target="NBK1535">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Management" target="NBK1535">Management</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Genetic_Counseling" target="NBK1535">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Resources" target="NBK1535">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Molecular_Genetics" target="NBK1535">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Chapter_Notes" target="NBK1535">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.References" target="NBK1535">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
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||
Rogier Min | Truus EM Abbink | Marjo S van der Knaap <a href="/books/NBK1535" target="NBK1535" title="NCBI Bookshelf: Megalencephalic Leukoencephalopathy with Subcortical Cysts">view full author information</a></div></div>
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<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>
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<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline (summary by Lopez-Hernandez et al., 2011).
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Genetic Heterogeneity of Megalencephalic Leukoencephalopathy with Subcortical Cysts
|
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See also MLC2A (613925), caused by homozygous or compound heterozygous mutation in the HEPACAM gene (611642) on chromosome 11q24; MLC2B (613926), caused by heterozygous mutation in the HEPACAM gene; MLC3 (620447), caused by mutation in the GPRC5B gene (605948) on chromosome 16p12; and MLC4 (620448), caused by mutation in the AQP4 gene (600308) on chromosome 18q11. <a target="_blank" href="http://www.omim.org/entry/604004">http://www.omim.org/entry/604004</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size of the head (macrocephaly). Affected people also have leukoencephalopathy, an abnormality of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve cells (neurons) and promotes the rapid transmission of nerve impulses. In megalencephalic leukoencephalopathy with subcortical cysts, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop cysts in the brain; because these cysts form below an area of the brain called the cerebral cortex, they are called subcortical cysts. These cysts can grow in size and number.<br /><br />The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some people lose the ability to walk early in life and need wheelchair assistance, while others are able to walk unassisted well into adulthood. Minor head trauma can further impair movements and may lead to coma. Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty swallowing (dysphagia), and impaired speech (dysarthria). More than half of all people with this condition have recurrent seizures (epilepsy). Despite the widespread brain abnormalities, people with this condition typically have only mild to moderate intellectual disability.<br /><br />There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their signs and symptoms and genetic cause. Types 1 and 2A have different genetic causes but are nearly identical in signs and symptoms. Types 2A and 2B have the same genetic cause but the signs and symptoms of type 2B often begin to improve after one year. After improvement, individuals with type 2B usually have macrocephaly and may have intellectual disability. <a target="_blank" href="https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts">https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts</a></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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858854[DISCUI]&test_type=Clinical" ref="ncbi_uid=347006">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1858854[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=347006">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347006" target="_blank" href="/omim/604004">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=347006">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347006" ref="ncbi_uid=347006">V</a></span></span><span class="TLline">Megalencephalic leukoencephalopathy with subcortical cysts</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779875[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826136">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1826136" target="_blank" href="/omim/604004">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=1826136">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826136" ref="ncbi_uid=1826136">V</a></span></span><span class="TLline"><a href="/medgen/1826136" ref="tree=GTR&ncbi_uid=1826136&link_uid=1826136" title="View MedGen record for 'Megalencephalic leukoencephalopathy with subcortical cysts 1'">Megalencephalic leukoencephalopathy with subcortical cysts 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=C3151355[DISCUI]&test_type=Clinical" ref="ncbi_uid=462705">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3151355[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462705">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462705" target="_blank" href="/omim/611642">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=462705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462705" ref="ncbi_uid=462705">V</a></span></span><span class="TLline"><a href="/medgen/462705" ref="tree=GTR&ncbi_uid=462705&link_uid=462705" title="View MedGen record for 'Megalencephalic leukoencephalopathy with subcortical cysts 2A'">Megalencephalic leukoencephalopathy with subcortical cysts 2A</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=C3151356[DISCUI]&test_type=Clinical" ref="ncbi_uid=462706">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3151356[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462706">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462706" target="_blank" href="/omim/611642">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=462706">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462706" ref="ncbi_uid=462706">V</a></span></span><span class="TLline"><a href="/medgen/462706" ref="tree=GTR&ncbi_uid=462706&link_uid=462706" title="View MedGen record for 'Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability'">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</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/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span><ul><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="matched_ds">Megalencephalic leukoencephalopathy with subcortical cysts</span><ul><li><span class="TLline"><a href="/medgen/1826136" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 1">Megalencephalic leukoencephalopathy with subcortical cysts 1</a></span></li><li><span class="TLline"><a href="/medgen/462705" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2A">Megalencephalic leukoencephalopathy with subcortical cysts 2A</a></span></li><li><span class="TLline"><a href="/medgen/462706" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</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=3715&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Megalencephalic leukoencephalopathy with subcortical cysts</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/27378171">Yield and Clinical Utility of Next-Generation Sequencing in Selected Patients With Lung Adenocarcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">DiBardino DM,
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||
Saqi A,
|
||
Elvin JA,
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||
Greenbowe J,
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||
Suh JH,
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||
Miller VA,
|
||
Ali SM,
|
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Stoopler M,
|
||
Bulman WA</span><br />
|
||
<span class="medgenPMjournal">Clin Lung Cancer</span>
|
||
2016 Nov;17(6):517-522.e3.
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Epub 2016 Jun 8
|
||
doi: 10.1016/j.cllc.2016.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27378171" target="_blank">27378171</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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 (1)</a></div></div>
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||
</div>
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||
<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
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to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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||
<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>
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||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/37722850">Glial Cell Adhesion Molecule (GlialCAM) Determines Proliferative versus Invasive Cell States in Glioblastoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">De A,
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Lattier JM,
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Morales JE,
|
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Kelly JR,
|
||
Zheng X,
|
||
Chen Z,
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Sebastian S,
|
||
Nassiri Toosi Z,
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||
Huse JT,
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||
Lang FF,
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||
McCarty JH</span><br />
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||
<span class="medgenPMjournal">J Neurosci</span>
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||
2023 Nov 22;43(47):8043-8057.
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||
doi: 10.1523/JNEUROSCI.1401-23.2023.
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||
<span class="bold">PMID: </span><a href="/pubmed/37722850" target="_blank">37722850</a><a href="/pmc/articles/PMC10669794" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
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Garshasbi M,
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||
Kameli R,
|
||
Nilipour Y,
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||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
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<span class="medgenPMjournal">Expert Rev Neurother</span>
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||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
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||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29661901">Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton EMC,
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Tekturk P,
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||
Cialdella F,
|
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van Rappard DF,
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Wolf NI,
|
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Yalcinkaya C,
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Çetinçelik Ü,
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Rajaee A,
|
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Kariminejad A,
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Paprocka J,
|
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Yapici Z,
|
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Bošnjak VM,
|
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van der Knaap MS;
|
||
MLC Research Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Apr 17;90(16):e1395-e1403.
|
||
Epub 2018 Mar 21
|
||
doi: 10.1212/WNL.0000000000005334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29661901" target="_blank">29661901</a><a href="/pmc/articles/PMC5902784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
|
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Mar S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;724:154-71.
|
||
doi: 10.1007/978-1-4614-0653-2_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15163886">Megalencephalic leukoencephalopathy with subcortical cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi PK,
|
||
Sethi NK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2004 May;71(5):473-5.
|
||
doi: 10.1007/BF02725646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15163886" target="_blank">15163886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37143309">Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Passchier EMJ,
|
||
Kerst S,
|
||
Brouwers E,
|
||
Hamilton EMC,
|
||
Bisseling Q,
|
||
Bugiani M,
|
||
Waisfisz Q,
|
||
Kitchen P,
|
||
Unger L,
|
||
Breur M,
|
||
Hoogterp L,
|
||
de Vries SI,
|
||
Abbink TEM,
|
||
Kole MHP,
|
||
Leurs R,
|
||
Vischer HF,
|
||
Brignone MS,
|
||
Ambrosini E,
|
||
Feillet F,
|
||
Born AP,
|
||
Epstein LG,
|
||
Mansvelder HD,
|
||
Min R,
|
||
van der Knaap MS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3444-3454.
|
||
doi: 10.1093/brain/awad146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37143309" target="_blank">37143309</a><a href="/pmc/articles/PMC10393393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25742591">Megalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reis F,
|
||
Kido RY,
|
||
Mesquita JA,
|
||
Oshima MM,
|
||
Montenegro MA</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2015 Feb;73(2):171-2.
|
||
doi: 10.1590/0004-282X20140206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25742591" target="_blank">25742591</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
|
||
Mar S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;724:154-71.
|
||
doi: 10.1007/978-1-4614-0653-2_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14572144">Megalencephalic leukoencephalopathy with subcortical cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singhal BS,
|
||
Gorospe JR,
|
||
Naidu S</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2003 Sep;18(9):646-52.
|
||
doi: 10.1177/08830738030180091201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14572144" target="_blank">14572144</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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 (55)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30808533">Girl With Progressive Head Enlargement and Gait Disturbance: Clinicoradiological Clues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharawat IK,
|
||
Suthar R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Aug;97:80-81.
|
||
Epub 2019 Jan 30
|
||
doi: 10.1016/j.pediatrneurol.2019.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30808533" target="_blank">30808533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24506781">Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siva K,
|
||
Covello G,
|
||
Denti MA</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acid Ther</span>
|
||
2014 Feb;24(1):69-86.
|
||
doi: 10.1089/nat.2013.0461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24506781" target="_blank">24506781</a><a href="/pmc/articles/PMC3922311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22244366">Management of status dystonicus in children. Cases report and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grosso S,
|
||
Verrotti A,
|
||
Messina M,
|
||
Sacchini M,
|
||
Balestri P</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2012 Jul;16(4):390-5.
|
||
Epub 2012 Jan 12
|
||
doi: 10.1016/j.ejpn.2011.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22244366" target="_blank">22244366</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35468122">Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Oro A,
|
||
Reyes-Vaca JG,
|
||
Noriega-Reyes MF,
|
||
Esmer C</span><br />
|
||
<span class="medgenPMjournal">Bol Med Hosp Infant Mex</span>
|
||
2022;79(2):129-134.
|
||
doi: 10.24875/BMHIM.21000069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35468122" target="_blank">35468122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35440380">Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalaf-Nazzal R,
|
||
Dweikat I,
|
||
Maree M,
|
||
Alawneh M,
|
||
Barahmeh M,
|
||
Doulani RT,
|
||
Qrareya M,
|
||
Qadi M,
|
||
Dudin A</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2022 Aug;44(7):454-461.
|
||
Epub 2022 Apr 16
|
||
doi: 10.1016/j.braindev.2022.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35440380" target="_blank">35440380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27389245">Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Salam GM,
|
||
Abdel-Hamid MS,
|
||
Ismail SI,
|
||
Hosny H,
|
||
Omar T,
|
||
Effat L,
|
||
Aglan MS,
|
||
Temtamy SA,
|
||
Zaki MS</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2016 Oct;31(5):1171-9.
|
||
Epub 2016 Jul 7
|
||
doi: 10.1007/s11011-016-9861-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27389245" target="_blank">27389245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22411242">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SJ,
|
||
Mar S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;724:154-71.
|
||
doi: 10.1007/978-1-4614-0653-2_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22411242" target="_blank">22411242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15163886">Megalencephalic leukoencephalopathy with subcortical cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi PK,
|
||
Sethi NK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2004 May;71(5):473-5.
|
||
doi: 10.1007/BF02725646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15163886" target="_blank">15163886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35322718">Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadek AA,
|
||
Aladawy MA,
|
||
Mansour TMM,
|
||
Ibrahim MF,
|
||
Mohamed MM,
|
||
Gad EF,
|
||
Othman AA,
|
||
Ahmed HA,
|
||
Kasim AK,
|
||
Wagdy WM,
|
||
Hasan MHT,
|
||
Abdelkreem E</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2022 Apr;37(5):380-389.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1177/08830738221078683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35322718" target="_blank">35322718</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32388833">Epilepsy in children with leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Ban T,
|
||
Zhou L,
|
||
Ji H,
|
||
Yan H,
|
||
Shi Z,
|
||
Cao B,
|
||
Jiang Y,
|
||
Wang J,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2020 Sep;267(9):2612-2618.
|
||
Epub 2020 May 9
|
||
doi: 10.1007/s00415-020-09889-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32388833" target="_blank">32388833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31209783">Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brignone MS,
|
||
Lanciotti A,
|
||
Serafini B,
|
||
Mallozzi C,
|
||
Sbriccoli M,
|
||
Veroni C,
|
||
Molinari P,
|
||
Elorza-Vidal X,
|
||
Petrucci TC,
|
||
Estévez R,
|
||
Ambrosini E</span><br />
|
||
<span class="medgenPMjournal">Mol Neurobiol</span>
|
||
2019 Dec;56(12):8237-8254.
|
||
Epub 2019 Jun 17
|
||
doi: 10.1007/s12035-019-01657-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31209783" target="_blank">31209783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29661901">Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton EMC,
|
||
Tekturk P,
|
||
Cialdella F,
|
||
van Rappard DF,
|
||
Wolf NI,
|
||
Yalcinkaya C,
|
||
Çetinçelik Ü,
|
||
Rajaee A,
|
||
Kariminejad A,
|
||
Paprocka J,
|
||
Yapici Z,
|
||
Bošnjak VM,
|
||
van der Knaap MS;
|
||
MLC Research Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Apr 17;90(16):e1395-e1403.
|
||
Epub 2018 Mar 21
|
||
doi: 10.1212/WNL.0000000000005334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29661901" target="_blank">29661901</a><a href="/pmc/articles/PMC5902784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26908604">Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanciotti A,
|
||
Brignone MS,
|
||
Visentin S,
|
||
De Nuccio C,
|
||
Catacuzzeno L,
|
||
Mallozzi C,
|
||
Petrini S,
|
||
Caramia M,
|
||
Veroni C,
|
||
Minnone G,
|
||
Bernardo A,
|
||
Franciolini F,
|
||
Pessia M,
|
||
Bertini E,
|
||
Petrucci TC,
|
||
Ambrosini E</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2016 Apr 15;25(8):1543-58.
|
||
Epub 2016 Feb 9
|
||
doi: 10.1093/hmg/ddw032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26908604" target="_blank">26908604</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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 (38)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
<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=C1858854%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858854%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858854%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858854%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858854%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858854%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (12)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1858854%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2478" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%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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|
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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=605908%20611642" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23209[geneid]" target="_blank">View MLC1 variations in ClinVar</a></li><li><a href="/clinvar/?term=220296[geneid]" target="_blank">View HEPACAM variations in ClinVar</a></li><li><a href="/nuccore/218156322" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
||
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Megalencephalic+leukoencephalopathy+with+subcortical+cysts/4559" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/megalencephalic_leukoencephalopathy_with_subcortical_cysts_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3445/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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|
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|
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=347006" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=347006" ref="log$=recordlinks">PubMed</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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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=347006" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=347006" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb57cff4a390645e581af8">Megalencephalic leukoencephalopathy with subcortical cysts</a>
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<div class="ralinkpop offscreen_noflow">Megalencephalic leukoencephalopathy with subcortical cysts<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb57cef4a390645e58159e">C1858854[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb57cb84f3725e595485ca">Meester-Loeys syndrome</a>
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<div class="tertiary">MedGen</div>
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