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Isolated focal cortical dysplasia

Disease definition

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.

ORPHA:65683

  • Synonym(s):
    • Epilepsy due to FCD
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: All ages
  • ICD-10: Q04.8
  • OMIM: 607341
  • UMLS: C1846385  C2938983
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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