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<meta name="keywords" content="C2938983, congenital abnormality, cortical dysplasia, focal, dysplasia, focal cortical, focal cortical dysplasia, focal cortical dysplasias, 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="A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Focal cortical dysplasia (Concept Id: C2938983)
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<!--
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UID=853938
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ConceptID=C2938983
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Focal cortical dysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853938</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:">C2938983</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cortical Dysplasia, Focal; Dysplasia, Focal Cortical; Focal Cortical Dysplasia; Focal Cortical Dysplasias</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0032046">HP:0032046</a></td></tr>
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<div class="portlet_content ln">A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Focal cortical dysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871221" ref="tree=MeSH" title="MedGen record for Abnormal cerebral cortex morphology">Abnormal cerebral cortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/98129" ref="tree=MeSH" title="MedGen record for Cortical dysplasia">Cortical dysplasia</a></span><ul><li><span class="matched_ds">Focal cortical dysplasia</span><ul><li><span class="TLline"><a href="/medgen/1670970" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type I">Focal cortical dysplasia type I</a></span><ul><li><span class="TLline"><a href="/medgen/1671024" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type Ia">Focal cortical dysplasia type Ia</a></span></li><li><span class="TLline"><a href="/medgen/1670960" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type Ib">Focal cortical dysplasia type Ib</a></span><ul><li><span class="TLline"><a href="/medgen/1670948" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type Ic">Focal cortical dysplasia type Ic</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1671041" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type III">Focal cortical dysplasia type III</a></span><ul><li><span class="TLline"><a href="/medgen/1670982" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type IIIa">Focal cortical dysplasia type IIIa</a></span></li><li><span class="TLline"><a href="/medgen/1670995" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type IIIb">Focal cortical dysplasia type IIIb</a></span></li><li><span class="TLline"><a href="/medgen/1671107" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type IIIc">Focal cortical dysplasia type IIIc</a></span></li><li><span class="TLline"><a href="/medgen/1671033" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia type IIId">Focal cortical dysplasia type IIId</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/339510" ref="tree=MeSH" title="MedGen record for Isolated focal cortical dysplasia type II">Isolated focal cortical dysplasia type II</a></span><ul><li><span class="TLline"><a href="/medgen/1384182" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia, type IIA">Focal cortical dysplasia, type IIA</a></span></li><li><span class="TLline"><a href="/medgen/1390600" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia, type IIB">Focal cortical dysplasia, type IIB</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_413258"><div><strong>Cortical dysplasia-focal epilepsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413258</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.">C2750246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413258">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482832"><div><strong>Intellectual disability, autosomal dominant 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482832</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.">C3281202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to phenotypes involving both the central nervous system and peripheral nervous system referred to collectively as DYNC1H1-related neurodevelopmental disorder (DYNC1H1-NDD). DYNC1H1-NMD manifestations are limited to the peripheral nervous system and characterized predominantly by motor neuropathy initially most pronounced in the lower limbs; muscle weakness and atrophy variably associated with foot deformities, contractures, and other skeletal involvement; and/or delayed motor milestones. DYNC1H1-NDD manifestations include motor axonal neuropathy and often global developmental delay / intellectual disability, epilepsy, neurobehavioral/psychiatric manifestations, and movement disorders with or without malformations of cortical development and/or microcephaly. In an individual with more significant central nervous system involvement, the motor axonal neuropathy may not be evident clinically and, thus, is only detected on further evaluation such as electrophysiologic testing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482832">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934675"><div><strong>Epilepsy, familial focal, with variable foci 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934675</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.">C4310708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934675">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934676"><div><strong>Epilepsy, familial focal, with variable foci 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934676</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.">C4310709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641798"><div><strong>Epilepsy, familial focal, with variable foci 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641798</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.">C4551983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</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.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675829"><div><strong>Galloway-Mowat syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675829</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.">C5193045</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675829">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1774807"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1774807</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.">C5436962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; intellectual disability mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B) Congenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); MDDGB14 (615351), caused by mutation in the GMPPB gene (615320); and MDDGB15 (618992), caused by mutation in the DPM3 gene (605951).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1774807">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1802083"><div><strong>Osteoporosis, childhood- or juvenile-onset, with developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802083</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.">C5676992</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable, and includes mild intellectual or learning disabilities as well as wide-based gait and/or gross motor delays. Microcephaly is present in some patients (Marom et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1802083">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia-focal epilepsy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, familial focal, with variable foci 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, familial focal, with variable foci 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, familial focal, with variable foci 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1774807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis, childhood- or juvenile-onset, with developmental delay</a></div></span></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/33834938">Focal cortical dysplasia: an update on diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Barba C</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2021 Nov;21(11):1213-1224.
|
||
Epub 2021 Apr 25
|
||
doi: 10.1080/14737175.2021.1915135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33834938" target="_blank">33834938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32766946">Focal cortical dysplasia: etiology, epileptogenesis, classification, clinical presentation, imaging, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tahta A,
|
||
Turgut M</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2020 Dec;36(12):2939-2947.
|
||
Epub 2020 Aug 6
|
||
doi: 10.1007/s00381-020-04851-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32766946" target="_blank">32766946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29426806">Neonatal epilepsies: Clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornet MC,
|
||
Sands TT,
|
||
Cilio MR</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2018 Jun;23(3):204-212.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.siny.2018.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29426806" target="_blank">29426806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22focal%20cortical%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (34)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38100333">Anti-seizure gene therapy for focal cortical dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almacellas Barbanoj A,
|
||
Graham RT,
|
||
Maffei B,
|
||
Carpenter JC,
|
||
Leite M,
|
||
Hoke J,
|
||
Hardjo F,
|
||
Scott-Solache J,
|
||
Chimonides C,
|
||
Schorge S,
|
||
Kullmann DM,
|
||
Magloire V,
|
||
Lignani G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Feb 1;147(2):542-553.
|
||
doi: 10.1093/brain/awad387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38100333" target="_blank">38100333</a><a href="/pmc/articles/PMC10834237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35706131">The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Najm I,
|
||
Lal D,
|
||
Alonso Vanegas M,
|
||
Cendes F,
|
||
Lopes-Cendes I,
|
||
Palmini A,
|
||
Paglioli E,
|
||
Sarnat HB,
|
||
Walsh CA,
|
||
Wiebe S,
|
||
Aronica E,
|
||
Baulac S,
|
||
Coras R,
|
||
Kobow K,
|
||
Cross JH,
|
||
Garbelli R,
|
||
Holthausen H,
|
||
Rössler K,
|
||
Thom M,
|
||
El-Osta A,
|
||
Lee JH,
|
||
Miyata H,
|
||
Guerrini R,
|
||
Piao YS,
|
||
Zhou D,
|
||
Blümcke I</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2022 Aug;63(8):1899-1919.
|
||
Epub 2022 Jun 15
|
||
doi: 10.1111/epi.17301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35706131" target="_blank">35706131</a><a href="/pmc/articles/PMC9545778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34839379">MRI of focal cortical dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urbach H,
|
||
Kellner E,
|
||
Kremers N,
|
||
Blümcke I,
|
||
Demerath T</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
2022 Mar;64(3):443-452.
|
||
Epub 2021 Nov 27
|
||
doi: 10.1007/s00234-021-02865-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34839379" target="_blank">34839379</a><a href="/pmc/articles/PMC8850246" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33834938">Focal cortical dysplasia: an update on diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrini R,
|
||
Barba C</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2021 Nov;21(11):1213-1224.
|
||
Epub 2021 Apr 25
|
||
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Cotton J,
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<div class="nl"><a target="_blank" href="/pubmed/36823117">Focal cortical dysplasia: a practical guide for neurologists.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/29782369" target="_blank">29782369</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29273383">SEEG-guided radiofrequency thermocoagulation.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%20cortical%20dysplasia%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 (391)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36823117">Focal cortical dysplasia: a practical guide for neurologists.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Balestrini S,
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Barba C,
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Thom M,
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<span class="bold">PMID: </span><a href="/pubmed/36823117" target="_blank">36823117</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chakraborty A,
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Dey S,
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Kumar K,
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<div class="nl"><a target="_blank" href="/pubmed/31444548">Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldassari S,
|
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Ribierre T,
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Marsan E,
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Adle-Biassette H,
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Ferrand-Sorbets S,
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Bulteau C,
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Dorison N,
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Fohlen M,
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Polivka M,
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Weckhuysen S,
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Dorfmüller G,
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Chipaux M,
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Baulac S</span><br />
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Epub 2019 Aug 23
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<span class="bold">PMID: </span><a href="/pubmed/31444548" target="_blank">31444548</a><a href="/pmc/articles/PMC6851393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29782369">Neuroimaging in epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sidhu MK,
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Duncan JS,
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Sander JW</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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2018 Aug;31(4):371-378.
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doi: 10.1097/WCO.0000000000000568.
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<span class="bold">PMID: </span><a href="/pubmed/29782369" target="_blank">29782369</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29273383">SEEG-guided radiofrequency thermocoagulation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bourdillon P,
|
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Devaux B,
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Job-Chapron AS,
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Isnard J</span><br />
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<span class="medgenPMjournal">Neurophysiol Clin</span>
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2018 Feb;48(1):59-64.
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Epub 2017 Dec 19
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doi: 10.1016/j.neucli.2017.11.011.
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<span class="bold">PMID: </span><a href="/pubmed/29273383" target="_blank">29273383</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%20cortical%20dysplasia%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 (532)</a></div></div>
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</div>
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<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>
|
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37631608">Automatic Detection of Focal Cortical Dysplasia Using MRI: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Murillo D,
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Castro-Ospina AE,
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Duque-Muñoz L,
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Martínez-Vargas JD,
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Suárez-Revelo JX,
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Vélez-Arango JM,
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de la Iglesia-Vayá M</span><br />
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<span class="medgenPMjournal">Sensors (Basel)</span>
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2023 Aug 10;23(16)
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<span class="bold">PMID: </span><a href="/pubmed/37631608" target="_blank">37631608</a><a href="/pmc/articles/PMC10458261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34893558">Seizure Outcome After Surgery for MRI-Diagnosed Focal Cortical Dysplasia: A Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Willard A,
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Antonic-Baker A,
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Chen Z,
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O'Brien TJ,
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Kwan P,
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<span class="bold">PMID: </span><a href="/pubmed/34893558" target="_blank">34893558</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31237346">Surgery for epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">West S,
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Nevitt SJ,
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Cotton J,
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Gandhi S,
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Weston J,
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Sudan A,
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Ramirez R,
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Newton R</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/31237346" target="_blank">31237346</a><a href="/pmc/articles/PMC6591702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26130264">Surgery for epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">West S,
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Nolan SJ,
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Cotton J,
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Gandhi S,
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Weston J,
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Sudan A,
|
||
Ramirez R,
|
||
Newton R</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Jul 1;(7):CD010541.
|
||
doi: 10.1002/14651858.CD010541.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26130264" target="_blank">26130264</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/24861491">Pathogenetic mechanisms of focal cortical dysplasia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Marin-Valencia I,
|
||
Guerrini R,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2014 Jul;55(7):970-8.
|
||
Epub 2014 May 23
|
||
doi: 10.1111/epi.12650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24861491" target="_blank">24861491</a><a href="/pmc/articles/PMC4107035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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