Isolated focal cortical dysplasia

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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 July 2024

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Isolated focal cortical dysplasia?

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Advocacy Organizations

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

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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