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<!--
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||
UID=815744
|
||
ConceptID=C3809414
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Complex cortical dysplasia with other brain malformations 3<span class="h1sub">(CDCBM3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815744</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:">C3809414</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CDCBM3; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KIF2A - ID: 3796 - NCBI Gene" href="/gene/3796" class="medgenPMinfo">KIF2A</a> (5q12.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014170" target="_blank">MONDO:0014170</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615411" target="_blank">615411</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">Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78604"><div><strong>Lissencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78604</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.">C0266463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78604">Feature record</a> | <a href="/medgen?term=%22Lissencephaly%22%5BClinical%20Features%5D%20OR%2078604%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120579"><div><strong>Macrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120579</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.">C0266483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120579">Feature record</a> | <a href="/medgen?term=%22Macrogyria%22%5BClinical%20Features%5D%20OR%20120579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452349"><div><strong>Gray matter heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452349</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.">C0266491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452349">Feature record</a> | <a href="/medgen?term=%22Gray%20matter%20heterotopia%22%5BClinical%20Features%5D%20OR%20452349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98433"><div><strong>Spastic tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98433</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.">C0426970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paralysis affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98433">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraplegia%22%5BClinical%20Features%5D%20OR%2098433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98129"><div><strong>Cortical dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98129</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.">C0431380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of developmental dysplasia of the cerebral cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98129">Feature record</a> | <a href="/medgen?term=%22Cortical%20dysplasia%22%5BClinical%20Features%5D%20OR%2098129%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336288"><div><strong>Subcortical band heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336288</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.">C1848201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.\n\nThe abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336288">Feature record</a> | <a href="/medgen?term=%22Subcortical%20band%20heterotopia%22%5BClinical%20Features%5D%20OR%20336288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_361827"><div><strong>Agyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>361827</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.">C1879312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/361827">Feature record</a> | <a href="/medgen?term=%22Agyria%22%5BClinical%20Features%5D%20OR%20361827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</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.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_361827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gray matter heterotopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lissencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrogyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcortical band heterotopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38115306">Prenatal diagnosis of microcephaly through combined MRI and ultrasonography: Analysis of a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pei SP,
|
||
Guan HL,
|
||
Jin F</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Dec 15;102(50):e36623.
|
||
doi: 10.1097/MD.0000000000036623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38115306" target="_blank">38115306</a><a href="/pmc/articles/PMC10727632" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37919037">Updated Genotype-Phenotype Correlations in TSC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Trivisano M,
|
||
Specchio N</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2023 Oct;47:101086.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1016/j.spen.2023.101086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37919037" target="_blank">37919037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28302901">Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samuels JA</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jul 7;12(7):1196-1202.
|
||
Epub 2017 Mar 16
|
||
doi: 10.2215/CJN.08150816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28302901" target="_blank">28302901</a><a href="/pmc/articles/PMC5498351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203)%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 (9)</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/37919037">Updated Genotype-Phenotype Correlations in TSC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Trivisano M,
|
||
Specchio N</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2023 Oct;47:101086.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1016/j.spen.2023.101086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37919037" target="_blank">37919037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Bebin EM,
|
||
Bhathal H,
|
||
Jansen FE,
|
||
Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
|
||
GWPCARE6 Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28633092">Epilepsy in neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pecoraro A,
|
||
Arehart E,
|
||
Gallentine W,
|
||
Radtke R,
|
||
Smith E,
|
||
Pizoli C,
|
||
Kansagra S,
|
||
Abdelnour E,
|
||
McLendon R,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2017 Aug;73:137-141.
|
||
Epub 2017 Jul 18
|
||
doi: 10.1016/j.yebeh.2017.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28633092" target="_blank">28633092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26706013">Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Moavero R,
|
||
Roberto D,
|
||
Graziola F</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2015 Dec;22(4):259-73.
|
||
Epub 2015 Oct 21
|
||
doi: 10.1016/j.spen.2015.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26706013" target="_blank">26706013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25451314">Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarnat HB,
|
||
Flores-Sarnat L</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
|
||
2015 Jun;37(6):553-62.
|
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Epub 2014 Oct 19
|
||
doi: 10.1016/j.braindev.2014.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25451314" target="_blank">25451314</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203%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 (73)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37919037">Updated Genotype-Phenotype Correlations in TSC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Trivisano M,
|
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Specchio N</span><br />
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<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
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2023 Oct;47:101086.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1016/j.spen.2023.101086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37919037" target="_blank">37919037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Bebin EM,
|
||
Bhathal H,
|
||
Jansen FE,
|
||
Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
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GWPCARE6 Study Group</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
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<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30156054">Less common manifestations in TSC.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Boronat S,
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Barber I</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2018 Sep;178(3):348-354.
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Epub 2018 Aug 29
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doi: 10.1002/ajmg.c.31648.
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<span class="bold">PMID: </span><a href="/pubmed/30156054" target="_blank">30156054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28302901">Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samuels JA</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
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2017 Jul 7;12(7):1196-1202.
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Epub 2017 Mar 16
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doi: 10.2215/CJN.08150816.
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<span class="bold">PMID: </span><a href="/pubmed/28302901" target="_blank">28302901</a><a href="/pmc/articles/PMC5498351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11597290">Meningiomas in lymphangioleiomyomatosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Moss J,
|
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DeCastro R,
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Patronas NJ,
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Taveira-DaSilva A</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2001 Oct 17;286(15):1879-81.
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doi: 10.1001/jama.286.15.1879.
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<span class="bold">PMID: </span><a href="/pubmed/11597290" target="_blank">11597290</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203%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 (77)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35587487">Pilot study evaluating everolimus molecular mechanisms in tuberous sclerosis complex and focal cortical dysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leitner DF,
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Kanshin E,
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Askenazi M,
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Siu Y,
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Friedman D,
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Devore S,
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Jones D,
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Ueberheide B,
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Wisniewski T,
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Devinsky O</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2022;17(5):e0268597.
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Epub 2022 May 19
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doi: 10.1371/journal.pone.0268597.
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<span class="bold">PMID: </span><a href="/pubmed/35587487" target="_blank">35587487</a><a href="/pmc/articles/PMC9119437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34608615">Precision Therapy for Epilepsy Related to Brain Malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
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Poduri A</span><br />
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<span class="medgenPMjournal">Neurotherapeutics</span>
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2021 Jul;18(3):1548-1563.
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Epub 2021 Oct 4
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doi: 10.1007/s13311-021-01122-6.
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<span class="bold">PMID: </span><a href="/pubmed/34608615" target="_blank">34608615</a><a href="/pmc/articles/PMC8608994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Bebin EM,
|
||
Bhathal H,
|
||
Jansen FE,
|
||
Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
|
||
GWPCARE6 Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28302901">Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samuels JA</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jul 7;12(7):1196-1202.
|
||
Epub 2017 Mar 16
|
||
doi: 10.2215/CJN.08150816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28302901" target="_blank">28302901</a><a href="/pmc/articles/PMC5498351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11597290">Meningiomas in lymphangioleiomyomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moss J,
|
||
DeCastro R,
|
||
Patronas NJ,
|
||
Taveira-DaSilva A</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2001 Oct 17;286(15):1879-81.
|
||
doi: 10.1001/jama.286.15.1879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11597290" target="_blank">11597290</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203%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 (26)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38428171">Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Licchetta L,
|
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Bruschi G,
|
||
Stipa C,
|
||
Belotti LMB,
|
||
Ferri L,
|
||
Mostacci B,
|
||
Vignatelli L,
|
||
Minardi R,
|
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Di Vito L,
|
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Muccioli L,
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Boni A,
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Tinuper P,
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Bisulli F</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
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2024 Apr;153:109688.
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||
Epub 2024 Feb 29
|
||
doi: 10.1016/j.yebeh.2024.109688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38428171" target="_blank">38428171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37919037">Updated Genotype-Phenotype Correlations in TSC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Trivisano M,
|
||
Specchio N</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2023 Oct;47:101086.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1016/j.spen.2023.101086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37919037" target="_blank">37919037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Bebin EM,
|
||
Bhathal H,
|
||
Jansen FE,
|
||
Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
|
||
GWPCARE6 Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26706013">Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
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Moavero R,
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Roberto D,
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Graziola F</span><br />
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<span class="medgenPMjournal">Semin Pediatr Neurol</span>
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2015 Dec;22(4):259-73.
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Epub 2015 Oct 21
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doi: 10.1016/j.spen.2015.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26706013" target="_blank">26706013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23386324">Evolving neurobiology of tuberous sclerosis complex.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Crino PB</span><br />
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<span class="medgenPMjournal">Acta Neuropathol</span>
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2013 Mar;125(3):317-32.
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Epub 2013 Feb 6
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doi: 10.1007/s00401-013-1085-x.
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||
<span class="bold">PMID: </span><a href="/pubmed/23386324" target="_blank">23386324</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37919037">Updated Genotype-Phenotype Correlations in TSC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
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Trivisano M,
|
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Specchio N</span><br />
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<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2023 Oct;47:101086.
|
||
Epub 2023 Sep 18
|
||
doi: 10.1016/j.spen.2023.101086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37919037" target="_blank">37919037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31211165">Internodular functional connectivity in heterotopia-related epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khoo HM,
|
||
von Ellenrieder N,
|
||
Zazubovits N,
|
||
Hall JA,
|
||
Dubeau F,
|
||
Gotman J</span><br />
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
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||
2019 Jun;6(6):1010-1023.
|
||
Epub 2019 May 3
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||
doi: 10.1002/acn3.769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31211165" target="_blank">31211165</a><a href="/pmc/articles/PMC6562032" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28633092">Epilepsy in neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pecoraro A,
|
||
Arehart E,
|
||
Gallentine W,
|
||
Radtke R,
|
||
Smith E,
|
||
Pizoli C,
|
||
Kansagra S,
|
||
Abdelnour E,
|
||
McLendon R,
|
||
Mikati MA</span><br />
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||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2017 Aug;73:137-141.
|
||
Epub 2017 Jul 18
|
||
doi: 10.1016/j.yebeh.2017.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28633092" target="_blank">28633092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26706013">Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curatolo P,
|
||
Moavero R,
|
||
Roberto D,
|
||
Graziola F</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2015 Dec;22(4):259-73.
|
||
Epub 2015 Oct 21
|
||
doi: 10.1016/j.spen.2015.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26706013" target="_blank">26706013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11597290">Meningiomas in lymphangioleiomyomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moss J,
|
||
DeCastro R,
|
||
Patronas NJ,
|
||
Taveira-DaSilva A</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2001 Oct 17;286(15):1879-81.
|
||
doi: 10.1001/jama.286.15.1879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11597290" target="_blank">11597290</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203%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 (37)</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/27409709">Rapamycin and rapalogs for tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasongko TH,
|
||
Ismail NF,
|
||
Zabidi-Hussin Z</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Jul 13;7(7):CD011272.
|
||
doi: 10.1002/14651858.CD011272.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27409709" target="_blank">27409709</a><a href="/pmc/articles/PMC6458010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- 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=C3809414%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809414%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809414%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809414%5bDISCUI%5d" target="_blank">See all (18)</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="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615411" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
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