Agent Commons Collaborative Research
Isolated focal cortical dysplasia
rareIsolated 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.
- Identifiers
- MONDO:0019009 Orphanet:65683
- Part of
- Cerebral cortical dysplasiaOvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Also known as
- epilepsy due to FCD
Subtypes
| Disease | Subtypes |
|---|---|
| Isolated focal cortical dysplasia type I | 3 |
| Isolated focal cortical dysplasia type II | 2 |
Projects
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