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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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Isolated focal cortical dysplasia?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance is a trusted source of information for parents and caregivers before and after epilepsy surgery. We’re with our families every step of the way from the point of drug resistance through the transition to adulthood and beyond. Our mission is to enhance the lives of children who need neurosurgery to treat medicationresistant epilepsy by empowering their fam
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.