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<meta name="keywords" content="C5231458, apc2, cdcbm10, cortical dysplasia, complex, with other brain malformations 10, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1684859
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ConceptID=C5231458
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cortical dysplasia, complex, with other brain malformations 10<span class="h1sub">(CDCBM10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684859</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:">C5231458</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>CDCBM10; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10</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="APC2 - ID: 10297 - NCBI Gene" href="/gene/10297" class="medgenPMinfo">APC2</a> (19p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032866" target="_blank">MONDO:0032866</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618677" target="_blank">618677</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">Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<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_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_115963"><div><strong>Generalized-onset seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115963</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.">C0234533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115963">Feature record</a> | <a href="/medgen?term=%22Generalized-onset%20seizure%22%5BClinical%20Features%5D%20OR%20115963%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_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</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.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%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_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%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_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</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.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332508"><div><strong>Delayed gross motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332508</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.">C1837658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332508">Feature record</a> | <a href="/medgen?term=%22Delayed%20gross%20motor%20development%22%5BClinical%20Features%5D%20OR%20332508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334226"><div><strong>Hypoplasia of the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334226</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.">C1842688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the brainstem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334226">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20334226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341246"><div><strong>Hypoplasia of the pons</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341246</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.">C1848529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the pons.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341246">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20pons%22%5BClinical%20Features%5D%20OR%20341246%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868509"><div><strong>Delayed early-childhood social milestone development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868509</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.">C4022906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to meet one or more age-related milestones of social behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868509">Feature record</a> | <a href="/medgen?term=%22Delayed%20early-childhood%20social%20milestone%20development%22%5BClinical%20Features%5D%20OR%20868509%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869257"><div><strong>Delayed fine motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869257</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.">C4023681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869257">Feature record</a> | <a href="/medgen?term=%22Delayed%20fine%20motor%20development%22%5BClinical%20Features%5D%20OR%20869257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870522"><div><strong>Thick cerebral cortex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870522</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.">C4024970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870522">Feature record</a> | <a href="/medgen?term=%22Thick%20cerebral%20cortex%22%5BClinical%20Features%5D%20OR%20870522%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1698492"><div><strong>Periventricular ribbonlike heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1698492</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.">C5139311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotopia that forms a continuous wavy line along the ventricular wall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1698492">Feature record</a> | <a href="/medgen?term=%22Periventricular%20ribbonlike%20heterotopia%22%5BClinical%20Features%5D%20OR%201698492%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_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%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 musculoskeletal system</span><ul><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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed early-childhood social milestone development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed fine motor development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed gross motor development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized-onset seizure</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_334226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the brainstem</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_341246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the pons</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</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_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_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1698492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular ribbonlike heterotopia</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_870522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick cerebral cortex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</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/35286974">Sirolimus treatment for tuberous sclerosis complex prior to epilepsy: Evidence from a registry-based real-world study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen YW,
|
||
Wang YY,
|
||
Zhang MN,
|
||
Xu Y,
|
||
Lu Q,
|
||
He W,
|
||
Chen HM,
|
||
Liu LY,
|
||
Pang LY,
|
||
Wang QH,
|
||
Dun S,
|
||
Li YF,
|
||
Gao J,
|
||
Han F,
|
||
Zou LP</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Apr;97:23-31.
|
||
Epub 2022 Mar 8
|
||
doi: 10.1016/j.seizure.2022.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35286974" target="_blank">35286974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34403804">A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bąbol-Pokora K,
|
||
Bielska M,
|
||
Bobeff K,
|
||
Jatczak-Pawlik I,
|
||
Borkowska J,
|
||
Kotulska K,
|
||
Jóźwiak S,
|
||
Młynarski W,
|
||
Trelińska J</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Oct;64(10):104309.
|
||
Epub 2021 Aug 14
|
||
doi: 10.1016/j.ejmg.2021.104309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34403804" target="_blank">34403804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28805828">Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braun DA,
|
||
Rao J,
|
||
Mollet G,
|
||
Schapiro D,
|
||
Daugeron MC,
|
||
Tan W,
|
||
Gribouval O,
|
||
Boyer O,
|
||
Revy P,
|
||
Jobst-Schwan T,
|
||
Schmidt JM,
|
||
Lawson JA,
|
||
Schanze D,
|
||
Ashraf S,
|
||
Ullmann JFP,
|
||
Hoogstraten CA,
|
||
Boddaert N,
|
||
Collinet B,
|
||
Martin G,
|
||
Liger D,
|
||
Lovric S,
|
||
Furlano M,
|
||
Guerrera IC,
|
||
Sanchez-Ferras O,
|
||
Hu JF,
|
||
Boschat AC,
|
||
Sanquer S,
|
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Menten B,
|
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Vergult S,
|
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De Rocker N,
|
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Airik M,
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Hermle T,
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Shril S,
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Widmeier E,
|
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Gee HY,
|
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Choi WI,
|
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Sadowski CE,
|
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Pabst WL,
|
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Warejko JK,
|
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Daga A,
|
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Basta T,
|
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Matejas V,
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Scharmann K,
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Kienast SD,
|
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Behnam B,
|
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Beeson B,
|
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Begtrup A,
|
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Bruce M,
|
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Ch'ng GS,
|
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Lin SP,
|
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Chang JH,
|
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Chen CH,
|
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Cho MT,
|
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Gaffney PM,
|
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Gipson PE,
|
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Hsu CH,
|
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Kari JA,
|
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Ke YY,
|
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Kiraly-Borri C,
|
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Lai WM,
|
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Lemyre E,
|
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Littlejohn RO,
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Masri A,
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Moghtaderi M,
|
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Nakamura K,
|
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Ozaltin F,
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Praet M,
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Prasad C,
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Prytula A,
|
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Roeder ER,
|
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Rump P,
|
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Schnur RE,
|
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Shiihara T,
|
||
Sinha MD,
|
||
Soliman NA,
|
||
Soulami K,
|
||
Sweetser DA,
|
||
Tsai WH,
|
||
Tsai JD,
|
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Topaloglu R,
|
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Vester U,
|
||
Viskochil DH,
|
||
Vatanavicharn N,
|
||
Waxler JL,
|
||
Wierenga KJ,
|
||
Wolf MTF,
|
||
Wong SN,
|
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Leidel SA,
|
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Truglio G,
|
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Dedon PC,
|
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Poduri A,
|
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Mane S,
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Lifton RP,
|
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Bouchard M,
|
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Kannu P,
|
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Chitayat D,
|
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Magen D,
|
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Callewaert B,
|
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van Tilbeurgh H,
|
||
Zenker M,
|
||
Antignac C,
|
||
Hildebrandt F</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2017 Oct;49(10):1529-1538.
|
||
Epub 2017 Aug 14
|
||
doi: 10.1038/ng.3933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28805828" target="_blank">28805828</a><a href="/pmc/articles/PMC5819591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010)%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 (3)</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/36001086">A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calì E,
|
||
Lin SJ,
|
||
Rocca C,
|
||
Sahin Y,
|
||
Al Shamsi A,
|
||
El Chehadeh S,
|
||
Chaabouni M,
|
||
Mankad K,
|
||
Galanaki E,
|
||
Efthymiou S,
|
||
Sudhakar S,
|
||
Athanasiou-Fragkouli A,
|
||
Çelik T,
|
||
Narlı N,
|
||
Bianca S,
|
||
Murphy D,
|
||
De Carvalho Moreira FM;
|
||
SYNaPS Study Group,
|
||
Andrea Accogli,
|
||
Petree C,
|
||
Huang K,
|
||
Monastiri K,
|
||
Edizadeh M,
|
||
Nardello R,
|
||
Ognibene M,
|
||
De Marco P,
|
||
Ruggieri M,
|
||
Zara F,
|
||
Striano P,
|
||
Şahin Y,
|
||
Al-Gazali L,
|
||
Abi Warde MT,
|
||
Gerard B,
|
||
Zifarelli G,
|
||
Beetz C,
|
||
Fortuna S,
|
||
Soler M,
|
||
Valente EM,
|
||
Varshney G,
|
||
Maroofian R,
|
||
Salpietro V,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Oct;24(10):2194-2203.
|
||
Epub 2022 Aug 24
|
||
doi: 10.1016/j.gim.2022.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36001086" target="_blank">36001086</a><a href="/pmc/articles/PMC10519206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33892851">Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MP</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Apr;37:100875.
|
||
Epub 2021 Feb 11
|
||
doi: 10.1016/j.spen.2021.100875.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33892851" target="_blank">33892851</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/27267556">Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahin M,
|
||
Henske EP,
|
||
Manning BD,
|
||
Ess KC,
|
||
Bissler JJ,
|
||
Klann E,
|
||
Kwiatkowski DJ,
|
||
Roberds SL,
|
||
Silva AJ,
|
||
Hillaire-Clarke CS,
|
||
Young LR,
|
||
Zervas M,
|
||
Mamounas LA;
|
||
Tuberous Sclerosis Complex Working Group to Update the Research Plan</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jul;60:1-12.
|
||
Epub 2016 Apr 2
|
||
doi: 10.1016/j.pediatrneurol.2016.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27267556" target="_blank">27267556</a><a href="/pmc/articles/PMC4921275" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33892851">Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam MP</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Apr;37:100875.
|
||
Epub 2021 Feb 11
|
||
doi: 10.1016/j.spen.2021.100875.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33892851" target="_blank">33892851</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/32940773">Introduction to phacomatoses (neurocutaneous disorders) in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggieri M,
|
||
Polizzi A,
|
||
Marceca GP,
|
||
Catanzaro S,
|
||
Praticò AD,
|
||
Di Rocco C</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2020 Oct;36(10):2229-2268.
|
||
Epub 2020 Sep 17
|
||
doi: 10.1007/s00381-020-04758-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32940773" target="_blank">32940773</a></div>
|
||
|
||
<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 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=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010%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 (35)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/31217257">A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Overwater IE,
|
||
Rietman AB,
|
||
Mous SE,
|
||
Bindels-de Heus K,
|
||
Rizopoulos D,
|
||
Ten Hoopen LW,
|
||
van der Vaart T,
|
||
Jansen FE,
|
||
Elgersma Y,
|
||
Moll HA,
|
||
de Wit MY;
|
||
ENCORE Expertise Centre for Neurodevelopmental Disorders</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jul 9;93(2):e200-e209.
|
||
Epub 2019 Jun 19
|
||
doi: 10.1212/WNL.0000000000007749.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31217257" target="_blank">31217257</a></div>
|
||
|
||
<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 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 />
|
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<span class="medgenPMjournal">JAMA</span>
|
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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=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38523034">Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin L,
|
||
Li Y,
|
||
Luo S,
|
||
Peng Q,
|
||
Zhai QX,
|
||
Zhai JX,
|
||
Gao LD,
|
||
Guo JJ,
|
||
Song W,
|
||
Yi YH,
|
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He N,
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Chen YJ</span><br />
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<span class="medgenPMjournal">Seizure</span>
|
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2024 Mar;116:87-92.
|
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Epub 2024 Mar 21
|
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doi: 10.1016/j.seizure.2024.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38523034" target="_blank">38523034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37657306">Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin L,
|
||
Li Y,
|
||
Luo S,
|
||
Peng Q,
|
||
Zhai QX,
|
||
Zhai JX,
|
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Gao LD,
|
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Guo JJ,
|
||
Song W,
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||
Yi YH,
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He N,
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Chen YJ</span><br />
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<span class="medgenPMjournal">Seizure</span>
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2023 Oct;111:172-177.
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Epub 2023 Aug 18
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doi: 10.1016/j.seizure.2023.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37657306" target="_blank">37657306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33812307">Predictors and Long-term Outcome of Resective Epilepsy Surgery in Patients with Tuberous Sclerosis Complex: A Single-centre Retrospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang Q,
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Zhou J,
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Wang X,
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||
Li T,
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Wang M,
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Wang J,
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Teng P,
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Qi X,
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Zhu M,
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Luan G,
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Zhai F</span><br />
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<span class="medgenPMjournal">Seizure</span>
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2021 May;88:45-52.
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Epub 2021 Mar 25
|
||
doi: 10.1016/j.seizure.2021.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33812307" target="_blank">33812307</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,
|
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Kotulska K,
|
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Lawson JA,
|
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O'Callaghan FJ,
|
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Wong M,
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Sahebkar F,
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Checketts D,
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Knappertz V;
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GWPCARE6 Study Group</span><br />
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<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/19560049">Neuroimaging of children following prenatal drug exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derauf C,
|
||
Kekatpure M,
|
||
Neyzi N,
|
||
Lester B,
|
||
Kosofsky B</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Dev Biol</span>
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2009 Jun;20(4):441-54.
|
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Epub 2009 Mar 13
|
||
doi: 10.1016/j.semcdb.2009.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19560049" target="_blank">19560049</a><a href="/pmc/articles/PMC2704485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37657306">Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin L,
|
||
Li Y,
|
||
Luo S,
|
||
Peng Q,
|
||
Zhai QX,
|
||
Zhai JX,
|
||
Gao LD,
|
||
Guo JJ,
|
||
Song W,
|
||
Yi YH,
|
||
He N,
|
||
Chen YJ</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2023 Oct;111:172-177.
|
||
Epub 2023 Aug 18
|
||
doi: 10.1016/j.seizure.2023.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37657306" target="_blank">37657306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34619372">Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Treimer E,
|
||
Niedermayer K,
|
||
Schumann S,
|
||
Zenker M,
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||
Schmeisser MJ,
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Kühl SJ</span><br />
|
||
<span class="medgenPMjournal">Gene Expr Patterns</span>
|
||
2021 Dec;42:119215.
|
||
Epub 2021 Oct 4
|
||
doi: 10.1016/j.gep.2021.119215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34619372" target="_blank">34619372</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,
|
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Arehart E,
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Gallentine W,
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Radtke R,
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||
Smith E,
|
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Pizoli C,
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Kansagra S,
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Abdelnour E,
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McLendon R,
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Mikati MA</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2017 Aug;73:137-141.
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||
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/19560049">Neuroimaging of children following prenatal drug exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derauf C,
|
||
Kekatpure M,
|
||
Neyzi N,
|
||
Lester B,
|
||
Kosofsky B</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Dev Biol</span>
|
||
2009 Jun;20(4):441-54.
|
||
Epub 2009 Mar 13
|
||
doi: 10.1016/j.semcdb.2009.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19560049" target="_blank">19560049</a><a href="/pmc/articles/PMC2704485" 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=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010%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 (18)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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/36550402">NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero VI,
|
||
Arias-Almeida B,
|
||
Aguiar SA</span><br />
|
||
<span class="medgenPMjournal">BMC Genomics</span>
|
||
2022 Dec 22;23(1):849.
|
||
doi: 10.1186/s12864-022-09071-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36550402" target="_blank">36550402</a><a href="/pmc/articles/PMC9783842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5231458%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5231458%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5231458%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5231458%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%2010)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612034" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10297[geneid]" target="_blank">View APC2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618677" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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