Familial Focal Epilepsy with Variable Foci 3

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant familial form of epilepsy caused by mutation(s) in the NPRL3 gene, encoding GATOR1 complex protein NPRL3. It is characterized by focal seizures arising from different cortical regions, with some patients having structural brain abnormalities, including focal cortical dysplasia.

**Synonyms:** - FFEVF3