Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. [ Orphanet:65683 ]
Synonyms: epilepsy due to FCD
Term information
- NANDO:1200564 (https://orcid.org/0000-0003-0011-764X)
- Orphanet:65683 (MONDO:equivalentTo)
- MEDGEN:1645432 (MONDO:equivalentTo)
- GARD:16671 (MONDO:GARD)
- UMLS:C4707795 (MONDO:equivalentTo)
- SCTID:766710005 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_65683
http://linkedlifedata.com/resource/umls/id/C4707795
http://identifiers.org/medgen/1645432
http://identifiers.org/snomedct/766710005