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