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<!--
|
||
UID=815343
|
||
ConceptID=C3809013
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Complex cortical dysplasia with other brain malformations 2<span class="h1sub">(CDCBM2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815343</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:">C3809013</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>CDCBM2; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2</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="KIF5C - ID: 3800 - NCBI Gene" href="/gene/3800" class="medgenPMinfo">KIF5C</a> (2q23.1-23.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014116" target="_blank">MONDO:0014116</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615282" target="_blank">615282</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 KIF5C 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_108279"><div><strong>Small hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108279</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.">C0575802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disproportionately small hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108279">Feature record</a> | <a href="/medgen?term=%22Small%20hand%22%5BClinical%20Features%5D%20OR%20108279%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376415"><div><strong>Short foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376415</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.">C1848673</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376415">Feature record</a> | <a href="/medgen?term=%22Short%20foot%22%5BClinical%20Features%5D%20OR%20376415%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</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.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Self-aggression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66708"><div><strong>Clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66708</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.">C0234535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66708">Feature record</a> | <a href="/medgen?term=%22Clonic%20seizure%22%5BClinical%20Features%5D%20OR%2066708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78605"><div><strong>Polymicrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78605</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.">C0266464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78605">Feature record</a> | <a href="/medgen?term=%22Polymicrogyria%22%5BClinical%20Features%5D%20OR%2078605%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_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%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_1830310"><div><strong>Arthrogryposis multiplex congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830310</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.">C5779613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital contractures in different body areas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830310">Feature record</a> | <a href="/medgen?term=%22Arthrogryposis%20multiplex%20congenita%22%5BClinical%20Features%5D%20OR%201830310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220903"><div><strong>Fetal akinesia deformation sequence 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220903</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.">C1276035</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220903">Feature record</a> | <a href="/medgen?term=%22Fetal%20akinesia%20deformation%20sequence%201%22%5BClinical%20Features%5D%20OR%20220903%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short foot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small hand</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal akinesia deformation sequence 1</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_1830310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary 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_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonic seizure</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_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_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria</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_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</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></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/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/36232477">Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Togi S,
|
||
Ura H,
|
||
Hatanaka H,
|
||
Niida Y</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Sep 22;23(19)
|
||
doi: 10.3390/ijms231911175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36232477" target="_blank">36232477</a><a href="/pmc/articles/PMC9569560" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%202)%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 (15)</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/31464700">Neuro-ophthalmic manifestations of the phakomatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douglas KAA,
|
||
Douglas VP,
|
||
Cestari DM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2019 Nov;30(6):434-442.
|
||
doi: 10.1097/ICU.0000000000000609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31464700" target="_blank">31464700</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 />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2015 Jun;37(6):553-62.
|
||
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 class="nl"><a target="_blank" href="/pubmed/23449174">Pediatric epilepsy genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandolfo M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2013 Apr;26(2):137-45.
|
||
doi: 10.1097/WCO.0b013e32835f19da.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23449174" target="_blank">23449174</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%202%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 (77)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/32222129">Tuberous sclerosis: a review of the past, present, and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uysal SP,
|
||
Şahin M</span><br />
|
||
<span class="medgenPMjournal">Turk J Med Sci</span>
|
||
2020 Nov 3;50(SI-2):1665-1676.
|
||
doi: 10.3906/sag-2002-133.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32222129" target="_blank">32222129</a><a href="/pmc/articles/PMC7672342" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31464700">Neuro-ophthalmic manifestations of the phakomatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douglas KAA,
|
||
Douglas VP,
|
||
Cestari DM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2019 Nov;30(6):434-442.
|
||
doi: 10.1097/ICU.0000000000000609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31464700" target="_blank">31464700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26564073">Tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MP,
|
||
Roach ES</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2015;132:97-109.
|
||
doi: 10.1016/B978-0-444-62702-5.00006-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26564073" target="_blank">26564073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23449174">Pediatric epilepsy genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandolfo M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2013 Apr;26(2):137-45.
|
||
doi: 10.1097/WCO.0b013e32835f19da.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23449174" target="_blank">23449174</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%202%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 (93)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38562027">Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schachenhofer J,
|
||
Gruber VE,
|
||
Fehrer SV,
|
||
Haider C,
|
||
Glatter S,
|
||
Liszewska E,
|
||
Höftberger R,
|
||
Aronica E,
|
||
Rössler K,
|
||
Jaworski J,
|
||
Scholl T,
|
||
Feucht M</span><br />
|
||
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
|
||
2024 Apr;50(2):e12974.
|
||
doi: 10.1111/nan.12974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38562027" target="_blank">38562027</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leitner DF,
|
||
Kanshin E,
|
||
Askenazi M,
|
||
Siu Y,
|
||
Friedman D,
|
||
Devore S,
|
||
Jones D,
|
||
Ueberheide B,
|
||
Wisniewski T,
|
||
Devinsky O</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(5):e0268597.
|
||
Epub 2022 May 19
|
||
doi: 10.1371/journal.pone.0268597.
|
||
<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/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%202%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 (36)</a></div><h3 class="subhead">Prognosis</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/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/23386324">Evolving neurobiology of tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crino PB</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2013 Mar;125(3):317-32.
|
||
Epub 2013 Feb 6
|
||
doi: 10.1007/s00401-013-1085-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23386324" target="_blank">23386324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22520346">Emerging treatments in the management of tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohrman MH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 May;46(5):267-75.
|
||
doi: 10.1016/j.pediatrneurol.2012.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22520346" target="_blank">22520346</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complex%20cortical%20dysplasia%20with%20other%20brain%20malformations%202%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 (39)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38418708">Astroglial calcium signaling and homeostasis in tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romagnolo A,
|
||
Dematteis G,
|
||
Scheper M,
|
||
Luinenburg MJ,
|
||
Mühlebner A,
|
||
Van Hecke W,
|
||
Manfredi M,
|
||
De Giorgis V,
|
||
Reano S,
|
||
Filigheddu N,
|
||
Bortolotto V,
|
||
Tapella L,
|
||
Anink JJ,
|
||
François L,
|
||
Dedeurwaerdere S,
|
||
Mills JD,
|
||
Genazzani AA,
|
||
Lim D,
|
||
Aronica E</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2024 Feb 28;147(1):48.
|
||
doi: 10.1007/s00401-024-02711-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38418708" target="_blank">38418708</a><a href="/pmc/articles/PMC10901927" 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/35670379">TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musante L,
|
||
Faletra F,
|
||
Meier K,
|
||
Tomoum H,
|
||
Najarzadeh Torbati P,
|
||
Blair E,
|
||
North S,
|
||
Gärtner J,
|
||
Diegmann S,
|
||
Beiraghi Toosi M,
|
||
Ashrafzadeh F,
|
||
Ghayoor Karimiani E,
|
||
Murphy D,
|
||
Murru FM,
|
||
Zanus C,
|
||
Magnolato A,
|
||
La Bianca M,
|
||
Feresin A,
|
||
Girotto G,
|
||
Gasparini P,
|
||
Costa P,
|
||
Carrozzi M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Sep;188(9):2652-2665.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/ajmg.a.62852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670379" target="_blank">35670379</a><a href="/pmc/articles/PMC9541101" 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,
|
||
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%202%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 (57)</a></div></div>
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<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%202%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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809013%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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<li><a href="/gtr/tests?term=C3809013%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
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<li><a href="/gtr/tests?term=C3809013%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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