isolated focal cortical dysplasia
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.
MONDO:0017094
cerebral cortical dysplasia
is_a
MONDO:0100283
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
is_a
epilepsy due to FCD
exact
SPAC18B11.11 SPAC22F3.13 SPBC216.07c SPBC30D10.10c SPAC630.13c