Isolated focal cortical dysplasia
Synonyms: Epilepsy due to FCD
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 grey matter signal blurred gray-white matter junction localized volume loss cortical thickening abnormal gyral pattern abnormal hippocampus) and variable histopathologic patterns are associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Isolated focal cortical dysplasia?
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Pediatric Epilepsy Surgery Alliance
We enhance the lives of children who need neurosurgery to treat medication-resistant epilepsy by empowering their families with research, support services, and impactful programs across the lifespan.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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