Conditions / Genetic

familial focal epilepsy with variable foci 1

info ยท Genetic

A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.

Signs and symptoms

  • Focal cortical dysplasia type II
  • Seizure
  • Focal cortical dysplasia
  • Hemimegalencephaly
  • Focal cortical dysplasia type IIa
  • Focal cortical dysplasia type I
  • Autistic behavior
  • Nocturnal seizures
  • Intellectual disability