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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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||
<!--
|
||
UID=364975
|
||
ConceptID=C1955869
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Malformation of cortical development<span class="h1sub">(MCD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>364975</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.">C1955869</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>MCD</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/170302">ARX</a>, <a target="_blank" href="/gene/7846">TUBA1A</a>, <a target="_blank" href="/gene/5649">RELN</a>, <a target="_blank" href="/gene/5048">PAFAH1B1</a>, <a target="_blank" href="/gene/3912">LAMB1</a>, <a target="_blank" href="/gene/1641">DCX</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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|
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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></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=C1955869[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=364975">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Malformation of cortical development</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0266463[DISCUI]&test_type=Clinical" ref="ncbi_uid=78604">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=78604" ref="ncbi_uid=78604">V</a></span></span><span class="TLline"><a href="/medgen/78604" ref="tree=GTR&ncbi_uid=78604&link_uid=78604" title="View MedGen record for 'Lissencephaly'">Lissencephaly</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/361827" ref="tree=GTR&ncbi_uid=361827&link_uid=361827" title="View MedGen record for 'Agyria'">Agyria</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=C3554657[DISCUI]&test_type=Clinical" ref="ncbi_uid=767571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767571" target="_blank" href="/omim/150240">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=767571" ref="ncbi_uid=767571">V</a></span></span><span class="TLline"><a href="/medgen/767571" ref="tree=GTR&ncbi_uid=767571&link_uid=767571" title="View MedGen record for 'Cobblestone lissencephaly without muscular or ocular involvement'">Cobblestone lissencephaly without muscular or ocular involvement</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=C4749301[DISCUI]&test_type=Clinical" ref="ncbi_uid=1657090">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/NBK5189/" ref="ncbi_uid=1657090">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1657090" ref="ncbi_uid=1657090">V</a></span></span><span class="TLline"><a href="/medgen/1657090" ref="tree=GTR&ncbi_uid=1657090&link_uid=1657090" title="View MedGen record for 'Lissencephaly due to LIS1 mutation'">Lissencephaly due to LIS1 mutation</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=C0265219[DISCUI]&test_type=Clinical" ref="ncbi_uid=78538">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78538" target="_blank" href="/omim/247200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5189/" ref="ncbi_uid=78538">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78538" ref="ncbi_uid=78538">V</a></span></span><span class="TLline"><a href="/medgen/78538" ref="tree=GTR&ncbi_uid=78538&link_uid=78538" title="View MedGen record for 'Miller Dieker syndrome'">Miller Dieker syndrome</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=C1848201[DISCUI]&test_type=Clinical" ref="ncbi_uid=336288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336288" target="_blank" href="/omim/300067">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=336288" ref="ncbi_uid=336288">V</a></span></span><span class="TLline"><a href="/medgen/336288" ref="tree=GTR&ncbi_uid=336288&link_uid=336288" title="View MedGen record for 'Subcortical band heterotopia'">Subcortical band heterotopia</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=C4305153[DISCUI]&test_type=Clinical" ref="ncbi_uid=930822">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=930822" target="_blank" href="/omim/602529">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK350554/" ref="ncbi_uid=930822">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=930822" ref="ncbi_uid=930822">V</a></span></span><span class="TLline"><a href="/medgen/930822" ref="tree=GTR&ncbi_uid=930822&link_uid=930822" title="View MedGen record for 'Lissencephaly due to TUBA1A mutation'">Lissencephaly due to TUBA1A mutation</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=C4551968[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644310">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644310" target="_blank" href="/omim/300067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1185/" ref="ncbi_uid=1644310">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1644310" ref="ncbi_uid=1644310">V</a></span></span><span class="TLline"><a href="/medgen/1644310" ref="tree=GTR&ncbi_uid=1644310&link_uid=1644310" title="View MedGen record for 'Lissencephaly type 1 due to doublecortin gene mutation'">Lissencephaly type 1 due to doublecortin gene mutation</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=C0796089[DISCUI]&test_type=Clinical" ref="ncbi_uid=163213">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=163213" target="_blank" href="/omim/257320">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=163213" ref="ncbi_uid=163213">V</a></span></span><span class="TLline"><a href="/medgen/163213" ref="tree=GTR&ncbi_uid=163213&link_uid=163213" title="View MedGen record for 'Norman-Roberts syndrome'">Norman-Roberts syndrome</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=C1846171[DISCUI]&test_type=Clinical" ref="ncbi_uid=375832">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375832" target="_blank" href="/omim/300215">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=375832" ref="ncbi_uid=375832">V</a></span></span><span class="TLline"><a href="/medgen/375832" ref="tree=GTR&ncbi_uid=375832&link_uid=375832" title="View MedGen record for 'X-linked lissencephaly with abnormal genitalia'">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><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="matched_ds">Malformation of cortical development</span><ul><li><span class="TLline"><a href="/medgen/324748" ref="tree=MeSH" title="MedGen record for Abnormality of neuronal migration">Abnormality of neuronal migration</a></span><ul><li><span class="TLline"><a href="/medgen/408200" ref="tree=MeSH" title="MedGen record for Classical Lissencephalies and Subcortical Band Heterotopias">Classical Lissencephalies and Subcortical Band Heterotopias</a></span></li><li><span class="TLline"><a href="/medgen/96562" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly">Cobblestone lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/767571" ref="tree=MeSH" title="MedGen record for Cobblestone lissencephaly without muscular or ocular involvement">Cobblestone lissencephaly without muscular or ocular involvement</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452349" ref="tree=MeSH" title="MedGen record for Gray matter heterotopia">Gray matter heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1766888" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia">Periventricular heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/766245" ref="tree=MeSH" title="MedGen record for Subcortical heterotopia">Subcortical heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78604" ref="tree=MeSH" title="MedGen record for Lissencephaly">Lissencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/1693266" ref="tree=MeSH" title="MedGen record for 2-3-layered lissencephaly">2-3-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1696793" ref="tree=MeSH" title="MedGen record for 6-layered lissencephaly">6-layered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/361827" ref="tree=MeSH" title="MedGen record for Agyria">Agyria</a></span></li><li><span class="TLline"><a href="/medgen/98463" ref="tree=MeSH" title="MedGen record for Classic lissencephaly">Classic lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/344450" ref="tree=MeSH" title="MedGen record for Focal lissencephaly">Focal lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1657090" ref="tree=MeSH" title="MedGen record for Lissencephaly due to LIS1 mutation">Lissencephaly due to LIS1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/930822" ref="tree=MeSH" title="MedGen record for Lissencephaly due to TUBA1A mutation">Lissencephaly due to TUBA1A mutation</a></span></li><li><span class="TLline"><a href="/medgen/369910" ref="tree=MeSH" title="MedGen record for Lissencephaly type 3">Lissencephaly type 3</a></span></li><li><span class="TLline"><a href="/medgen/1644310" ref="tree=MeSH" title="MedGen record for Lissencephaly type 1 due to doublecortin gene mutation">Lissencephaly type 1 due to doublecortin gene mutation</a></span></li><li><span class="TLline"><a href="/medgen/120579" ref="tree=MeSH" title="MedGen record for Macrogyria">Macrogyria</a></span></li><li><span class="TLline"><a href="/medgen/365439" ref="tree=MeSH" title="MedGen record for Microlissencephaly">Microlissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/78538" ref="tree=MeSH" title="MedGen record for Miller Dieker syndrome">Miller Dieker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163213" ref="tree=MeSH" title="MedGen record for Norman-Roberts syndrome">Norman-Roberts syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1703812" ref="tree=MeSH" title="MedGen record for Unlayered lissencephaly">Unlayered lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/375832" ref="tree=MeSH" title="MedGen record for X-linked lissencephaly with abnormal genitalia">X-linked lissencephaly with abnormal genitalia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/442882" ref="tree=MeSH" title="MedGen record for Chromosome 5Q14.3 deletion syndrome, distal">Chromosome 5Q14.3 deletion syndrome, distal</a></span></li><li><span class="TLline"><a href="/medgen/374963" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, associated with chromosome 5P anomalies">Heterotopia, periventricular, associated with chromosome 5P anomalies</a></span></li><li><span class="TLline"><a href="/medgen/376309" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, X-linked dominant">Heterotopia, periventricular, X-linked dominant</a></span></li><li><span class="TLline"><a href="/medgen/334110" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia with microcephaly, autosomal recessive">Periventricular heterotopia with microcephaly, autosomal recessive</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/827134" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group I">Malformations of Cortical Development, Group I</a></span><ul><li><span class="TLline"><a href="/medgen/44422" ref="tree=MeSH" title="MedGen record for Isolated congenital microcephaly">Isolated congenital microcephaly</a></span><ul><li><span class="TLline"><a href="/medgen/66319" ref="tree=MeSH" title="MedGen record for Autosomal dominant primary microcephaly">Autosomal dominant primary microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/777995" ref="tree=MeSH" title="MedGen record for Autosomal recessive primary microcephaly">Autosomal recessive primary microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/901502" ref="tree=MeSH" title="MedGen record for Porencephaly">Porencephaly</a></span></li><li><span class="TLline"><a href="/medgen/383046" ref="tree=MeSH" title="MedGen record for Primary microcephaly">Primary microcephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65141" ref="tree=MeSH" title="MedGen record for Megalencephaly">Megalencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/164085" ref="tree=MeSH" title="MedGen record for Acquired Macrocephaly">Acquired Macrocephaly</a></span></li><li><span class="TLline"><a href="/medgen/1815079" ref="tree=MeSH" title="MedGen record for Dysplastic megalencephaly">Dysplastic megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/977842" ref="tree=MeSH" title="MedGen record for Isolated megalencephaly">Isolated megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/322956" ref="tree=MeSH" title="MedGen record for Macrocephaly at birth">Macrocephaly at birth</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/827133" ref="tree=MeSH" title="MedGen record for Malformations of Cortical Development, Group III">Malformations of Cortical Development, Group III</a></span><ul><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span><ul><li><span class="TLline"><a href="/medgen/376107" ref="tree=MeSH" title="MedGen record for Bilateral frontoparietal polymicrogyria">Bilateral frontoparietal polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/1647593" ref="tree=MeSH" title="MedGen record for Bilateral polymicrogyria">Bilateral polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/1703574" ref="tree=MeSH" title="MedGen record for Focal polymicrogyria">Focal polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/335671" ref="tree=MeSH" title="MedGen record for Frontal polymicrogyria">Frontal polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/1707261" ref="tree=MeSH" title="MedGen record for Parasagittal parieto-occipital polymicrogyria">Parasagittal parieto-occipital polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/481305" ref="tree=MeSH" title="MedGen record for Perisylvian polymicrogyria">Perisylvian polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/870513" ref="tree=MeSH" title="MedGen record for Unilateral polymicrogyria">Unilateral polymicrogyria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78606" ref="tree=MeSH" title="MedGen record for Schizencephaly">Schizencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/1825983" ref="tree=MeSH" title="MedGen record for Acquired schizencephaly">Acquired schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/419186" ref="tree=MeSH" title="MedGen record for Familial schizencephaly">Familial schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814208" ref="tree=MeSH" title="MedGen record for Type 1 schizencephaly">Type 1 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814209" ref="tree=MeSH" title="MedGen record for Type 2 schizencephaly">Type 2 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814210" ref="tree=MeSH" title="MedGen record for Type 3 schizencephaly">Type 3 schizencephaly</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/336288" ref="tree=MeSH" title="MedGen record for Subcortical band heterotopia">Subcortical band heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/1703799" ref="tree=MeSH" title="MedGen record for Anterior predominant subcortical band heterotopia">Anterior predominant subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1689721" ref="tree=MeSH" title="MedGen record for Diffuse subcortical band heterotopia">Diffuse subcortical band heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/1691332" ref="tree=MeSH" title="MedGen record for Posterior predominant subcortical band heterotopia">Posterior predominant subcortical band heterotopia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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/36175372">DYNC1H1-related epilepsy: Genotype-phenotype correlation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liu W,
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Cheng M,
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Zhu Y,
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Chen Y,
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Yang Y,
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Chen H,
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Niu X,
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Tian X,
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Yang X,
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Zhang Y</span><br />
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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2023 Apr;65(4):534-543.
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Epub 2022 Sep 29
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doi: 10.1111/dmcn.15414.
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<span class="bold">PMID: </span><a href="/pubmed/36175372" target="_blank">36175372</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32316776">Treatment of infantile spasms: why do we know so little?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
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Pietrafusa N,
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Ferretti A,
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De Palma L,
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Santarone ME,
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Pepi C,
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Trivisano M,
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Vigevano F,
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Curatolo P</span><br />
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<span class="medgenPMjournal">Expert Rev Neurother</span>
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2020 Jun;20(6):551-566.
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Epub 2020 Jun 19
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doi: 10.1080/14737175.2020.1759423.
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<span class="bold">PMID: </span><a href="/pubmed/32316776" target="_blank">32316776</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28377535">GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Platzer K,
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Yuan H,
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Schütz H,
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Winschel A,
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Chen W,
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Hu C,
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Kusumoto H,
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Heyne HO,
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Helbig KL,
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Tang S,
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Willing MC,
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Tinkle BT,
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Adams DJ,
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Depienne C,
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Keren B,
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Mignot C,
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Frengen E,
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Strømme P,
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Biskup S,
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Döcker D,
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Strom TM,
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Mefford HC,
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Myers CT,
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Muir AM,
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LaCroix A,
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Sadleir L,
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Scheffer IE,
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Brilstra E,
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van Haelst MM,
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van der Smagt JJ,
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Bok LA,
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Møller RS,
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Jensen UB,
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Millichap JJ,
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Berg AT,
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Goldberg EM,
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De Bie I,
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Fox S,
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Major P,
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Jones JR,
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Zackai EH,
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Abou Jamra R,
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Rolfs A,
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Leventer RJ,
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Lawson JA,
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Roscioli T,
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Jansen FE,
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Ranza E,
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Korff CM,
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Lehesjoki AE,
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Courage C,
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Linnankivi T,
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Smith DR,
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Stanley C,
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Mintz M,
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McKnight D,
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Decker A,
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Tan WH,
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Tarnopolsky MA,
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Brady LI,
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Wolff M,
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Dondit L,
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Pedro HF,
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Parisotto SE,
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Jones KL,
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Patel AD,
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Franz DN,
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Vanzo R,
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Marco E,
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Ranells JD,
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Di Donato N,
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Dobyns WB,
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Laube B,
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Traynelis SF,
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Lemke JR</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
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2017 Jul;54(7):460-470.
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Epub 2017 Apr 4
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doi: 10.1136/jmedgenet-2016-104509.
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<span class="bold">PMID: </span><a href="/pubmed/28377535" target="_blank">28377535</a><a href="/pmc/articles/PMC5656050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22malformation%20of%20cortical%20development%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 (7)</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/38100333">Anti-seizure gene therapy for focal cortical dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almacellas Barbanoj A,
|
||
Graham RT,
|
||
Maffei B,
|
||
Carpenter JC,
|
||
Leite M,
|
||
Hoke J,
|
||
Hardjo F,
|
||
Scott-Solache J,
|
||
Chimonides C,
|
||
Schorge S,
|
||
Kullmann DM,
|
||
Magloire V,
|
||
Lignani G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Feb 1;147(2):542-553.
|
||
doi: 10.1093/brain/awad387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38100333" target="_blank">38100333</a><a href="/pmc/articles/PMC10834237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36307217">Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barba C,
|
||
Blumcke I,
|
||
Winawer MR,
|
||
Hartlieb T,
|
||
Kang HC,
|
||
Grisotto L,
|
||
Chipaux M,
|
||
Bien CG,
|
||
Heřmanovská B,
|
||
Porter BE,
|
||
Lidov HGW,
|
||
Cetica V,
|
||
Woermann FG,
|
||
Lopez-Rivera JA,
|
||
Canoll PD,
|
||
Mader I,
|
||
D'Incerti L,
|
||
Baldassari S,
|
||
Yang E,
|
||
Gaballa A,
|
||
Vogel H,
|
||
Straka B,
|
||
Macconi L,
|
||
Polster T,
|
||
Grant GA,
|
||
Krsková L,
|
||
Shin HJ,
|
||
Ko A,
|
||
Crino PB,
|
||
Krsek P,
|
||
Lee JH,
|
||
Lal D,
|
||
Baulac S,
|
||
Poduri A,
|
||
Guerrini R;
|
||
SLC35A2 Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 31;100(5):e528-e542.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1212/WNL.0000000000201471.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36307217" target="_blank">36307217</a><a href="/pmc/articles/PMC9931085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35562149">Focal cortical dysplasia: Updates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro J,
|
||
Honavar M</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
2022 May;65(Supplement):S189-S197.
|
||
doi: 10.4103/ijpm.ijpm_1226_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35562149" target="_blank">35562149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32822635">Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberink HJ,
|
||
Otte WM,
|
||
Blümcke I,
|
||
Braun KPJ;
|
||
European Epilepsy Brain Bank writing group;
|
||
study group;
|
||
European Reference Network EpiCARE</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Sep;19(9):748-757.
|
||
doi: 10.1016/S1474-4422(20)30220-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32822635" target="_blank">32822635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nevitt SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jun 25;6(6):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malformation%20of%20cortical%20development%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 (161)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38100333">Anti-seizure gene therapy for focal cortical dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almacellas Barbanoj A,
|
||
Graham RT,
|
||
Maffei B,
|
||
Carpenter JC,
|
||
Leite M,
|
||
Hoke J,
|
||
Hardjo F,
|
||
Scott-Solache J,
|
||
Chimonides C,
|
||
Schorge S,
|
||
Kullmann DM,
|
||
Magloire V,
|
||
Lignani G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Feb 1;147(2):542-553.
|
||
doi: 10.1093/brain/awad387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38100333" target="_blank">38100333</a><a href="/pmc/articles/PMC10834237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36226386">The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Rivera JA,
|
||
Leu C,
|
||
Macnee M,
|
||
Khoury J,
|
||
Hoffmann L,
|
||
Coras R,
|
||
Kobow K,
|
||
Bhattarai N,
|
||
Pérez-Palma E,
|
||
Hamer H,
|
||
Brandner S,
|
||
Rössler K,
|
||
Bien CG,
|
||
Kalbhenn T,
|
||
Pieper T,
|
||
Hartlieb T,
|
||
Butler E,
|
||
Genovese G,
|
||
Becker K,
|
||
Altmüller J,
|
||
Niestroj LM,
|
||
Ferguson L,
|
||
Busch RM,
|
||
Nürnberg P,
|
||
Najm I,
|
||
Blümcke I,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Apr 19;146(4):1342-1356.
|
||
doi: 10.1093/brain/awac376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36226386" target="_blank">36226386</a><a href="/pmc/articles/PMC10115236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35562149">Focal cortical dysplasia: Updates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro J,
|
||
Honavar M</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
2022 May;65(Supplement):S189-S197.
|
||
doi: 10.4103/ijpm.ijpm_1226_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35562149" target="_blank">35562149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32822635">Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberink HJ,
|
||
Otte WM,
|
||
Blümcke I,
|
||
Braun KPJ;
|
||
European Epilepsy Brain Bank writing group;
|
||
study group;
|
||
European Reference Network EpiCARE</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Sep;19(9):748-757.
|
||
doi: 10.1016/S1474-4422(20)30220-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32822635" target="_blank">32822635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nevitt SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jun 25;6(6):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malformation%20of%20cortical%20development%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 (166)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32822635">Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberink HJ,
|
||
Otte WM,
|
||
Blümcke I,
|
||
Braun KPJ;
|
||
European Epilepsy Brain Bank writing group;
|
||
study group;
|
||
European Reference Network EpiCARE</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Sep;19(9):748-757.
|
||
doi: 10.1016/S1474-4422(20)30220-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32822635" target="_blank">32822635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32316776">Treatment of infantile spasms: why do we know so little?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specchio N,
|
||
Pietrafusa N,
|
||
Ferretti A,
|
||
De Palma L,
|
||
Santarone ME,
|
||
Pepi C,
|
||
Trivisano M,
|
||
Vigevano F,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jun;20(6):551-566.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1080/14737175.2020.1759423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32316776" target="_blank">32316776</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nevitt SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jun 25;6(6):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28377535">GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Platzer K,
|
||
Yuan H,
|
||
Schütz H,
|
||
Winschel A,
|
||
Chen W,
|
||
Hu C,
|
||
Kusumoto H,
|
||
Heyne HO,
|
||
Helbig KL,
|
||
Tang S,
|
||
Willing MC,
|
||
Tinkle BT,
|
||
Adams DJ,
|
||
Depienne C,
|
||
Keren B,
|
||
Mignot C,
|
||
Frengen E,
|
||
Strømme P,
|
||
Biskup S,
|
||
Döcker D,
|
||
Strom TM,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Muir AM,
|
||
LaCroix A,
|
||
Sadleir L,
|
||
Scheffer IE,
|
||
Brilstra E,
|
||
van Haelst MM,
|
||
van der Smagt JJ,
|
||
Bok LA,
|
||
Møller RS,
|
||
Jensen UB,
|
||
Millichap JJ,
|
||
Berg AT,
|
||
Goldberg EM,
|
||
De Bie I,
|
||
Fox S,
|
||
Major P,
|
||
Jones JR,
|
||
Zackai EH,
|
||
Abou Jamra R,
|
||
Rolfs A,
|
||
Leventer RJ,
|
||
Lawson JA,
|
||
Roscioli T,
|
||
Jansen FE,
|
||
Ranza E,
|
||
Korff CM,
|
||
Lehesjoki AE,
|
||
Courage C,
|
||
Linnankivi T,
|
||
Smith DR,
|
||
Stanley C,
|
||
Mintz M,
|
||
McKnight D,
|
||
Decker A,
|
||
Tan WH,
|
||
Tarnopolsky MA,
|
||
Brady LI,
|
||
Wolff M,
|
||
Dondit L,
|
||
Pedro HF,
|
||
Parisotto SE,
|
||
Jones KL,
|
||
Patel AD,
|
||
Franz DN,
|
||
Vanzo R,
|
||
Marco E,
|
||
Ranells JD,
|
||
Di Donato N,
|
||
Dobyns WB,
|
||
Laube B,
|
||
Traynelis SF,
|
||
Lemke JR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2017 Jul;54(7):460-470.
|
||
Epub 2017 Apr 4
|
||
doi: 10.1136/jmedgenet-2016-104509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28377535" target="_blank">28377535</a><a href="/pmc/articles/PMC5656050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26130264">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nolan SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Jul 1;(7):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130264" target="_blank">26130264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malformation%20of%20cortical%20development%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36823117">Focal cortical dysplasia: a practical guide for neurologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Barba C,
|
||
Thom M,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2023 Aug;23(4):293-302.
|
||
Epub 2023 Feb 23
|
||
doi: 10.1136/pn-2022-003404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36823117" target="_blank">36823117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36307217">Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barba C,
|
||
Blumcke I,
|
||
Winawer MR,
|
||
Hartlieb T,
|
||
Kang HC,
|
||
Grisotto L,
|
||
Chipaux M,
|
||
Bien CG,
|
||
Heřmanovská B,
|
||
Porter BE,
|
||
Lidov HGW,
|
||
Cetica V,
|
||
Woermann FG,
|
||
Lopez-Rivera JA,
|
||
Canoll PD,
|
||
Mader I,
|
||
D'Incerti L,
|
||
Baldassari S,
|
||
Yang E,
|
||
Gaballa A,
|
||
Vogel H,
|
||
Straka B,
|
||
Macconi L,
|
||
Polster T,
|
||
Grant GA,
|
||
Krsková L,
|
||
Shin HJ,
|
||
Ko A,
|
||
Crino PB,
|
||
Krsek P,
|
||
Lee JH,
|
||
Lal D,
|
||
Baulac S,
|
||
Poduri A,
|
||
Guerrini R;
|
||
SLC35A2 Study Group</span><br />
|
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<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 31;100(5):e528-e542.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1212/WNL.0000000000201471.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36307217" target="_blank">36307217</a><a href="/pmc/articles/PMC9931085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32822635">Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberink HJ,
|
||
Otte WM,
|
||
Blümcke I,
|
||
Braun KPJ;
|
||
European Epilepsy Brain Bank writing group;
|
||
study group;
|
||
European Reference Network EpiCARE</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Sep;19(9):748-757.
|
||
doi: 10.1016/S1474-4422(20)30220-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32822635" target="_blank">32822635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nevitt SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jun 25;6(6):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26130264">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nolan SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Jul 1;(7):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130264" target="_blank">26130264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malformation%20of%20cortical%20development%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 (82)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36823117">Focal cortical dysplasia: a practical guide for neurologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
|
||
Barba C,
|
||
Thom M,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2023 Aug;23(4):293-302.
|
||
Epub 2023 Feb 23
|
||
doi: 10.1136/pn-2022-003404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36823117" target="_blank">36823117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36307217">Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barba C,
|
||
Blumcke I,
|
||
Winawer MR,
|
||
Hartlieb T,
|
||
Kang HC,
|
||
Grisotto L,
|
||
Chipaux M,
|
||
Bien CG,
|
||
Heřmanovská B,
|
||
Porter BE,
|
||
Lidov HGW,
|
||
Cetica V,
|
||
Woermann FG,
|
||
Lopez-Rivera JA,
|
||
Canoll PD,
|
||
Mader I,
|
||
D'Incerti L,
|
||
Baldassari S,
|
||
Yang E,
|
||
Gaballa A,
|
||
Vogel H,
|
||
Straka B,
|
||
Macconi L,
|
||
Polster T,
|
||
Grant GA,
|
||
Krsková L,
|
||
Shin HJ,
|
||
Ko A,
|
||
Crino PB,
|
||
Krsek P,
|
||
Lee JH,
|
||
Lal D,
|
||
Baulac S,
|
||
Poduri A,
|
||
Guerrini R;
|
||
SLC35A2 Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 31;100(5):e528-e542.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1212/WNL.0000000000201471.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36307217" target="_blank">36307217</a><a href="/pmc/articles/PMC9931085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36226386">The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Rivera JA,
|
||
Leu C,
|
||
Macnee M,
|
||
Khoury J,
|
||
Hoffmann L,
|
||
Coras R,
|
||
Kobow K,
|
||
Bhattarai N,
|
||
Pérez-Palma E,
|
||
Hamer H,
|
||
Brandner S,
|
||
Rössler K,
|
||
Bien CG,
|
||
Kalbhenn T,
|
||
Pieper T,
|
||
Hartlieb T,
|
||
Butler E,
|
||
Genovese G,
|
||
Becker K,
|
||
Altmüller J,
|
||
Niestroj LM,
|
||
Ferguson L,
|
||
Busch RM,
|
||
Nürnberg P,
|
||
Najm I,
|
||
Blümcke I,
|
||
Lal D</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Apr 19;146(4):1342-1356.
|
||
doi: 10.1093/brain/awac376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36226386" target="_blank">36226386</a><a href="/pmc/articles/PMC10115236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nevitt SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jun 25;6(6):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26130264">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nolan SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Jul 1;(7):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130264" target="_blank">26130264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malformation%20of%20cortical%20development%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 (111)</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/39323411">Postnatal outcome of fetal cortical malformations: systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abadia-Cuchi N,
|
||
Felici F,
|
||
Frassanito P,
|
||
Arulkumaran S,
|
||
Familiari A,
|
||
Thilaganathan B</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2024 Nov;64(5):581-588.
|
||
Epub 2024 Sep 26
|
||
doi: 10.1002/uog.29105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39323411" target="_blank">39323411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33480109">Neuropathology of genetically defined malformations of cortical development-A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brock S,
|
||
Cools F,
|
||
Jansen AC</span><br />
|
||
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
|
||
2021 Aug;47(5):585-602.
|
||
Epub 2021 Feb 14
|
||
doi: 10.1111/nan.12696.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33480109" target="_blank">33480109</a><a href="/pmc/articles/PMC8359484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33325054">Incomplete hippocampal inversion and epilepsy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutti C,
|
||
Riccò M,
|
||
Bartolini Y,
|
||
Bernabè G,
|
||
Trippi I,
|
||
Melpignano A,
|
||
Ciliento R,
|
||
Zinno L,
|
||
Florindo I,
|
||
Sasso E,
|
||
Odone A,
|
||
Parrino L,
|
||
Vaudano AE</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2021 Feb;62(2):383-396.
|
||
Epub 2020 Dec 16
|
||
doi: 10.1111/epi.16787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33325054" target="_blank">33325054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nevitt SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jun 25;6(6):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26130264">Surgery for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West S,
|
||
Nolan SJ,
|
||
Cotton J,
|
||
Gandhi S,
|
||
Weston J,
|
||
Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Jul 1;(7):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130264" target="_blank">26130264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malformation%20of%20cortical%20development%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 (8)</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=C1955869%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1955869%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</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://clinicaltrials.gov/search?cond=Malformation%20of%20cortical%20development" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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