Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.

ABSTRACT: The DEPDC5 gene (OMIM #614191), mapped to 22q12.2-q12.3, encodes the DEP domain-containing protein 5. DEPDC5 has been associated with a variety of familial epilepsies, including familial focal epilepsy with variable foci, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, epileptic spasms, and cortical dysplasia.(1-4) Notably, DEPDC5 has never been linked to increased risk of sudden unexpected death in epilepsy (SUDEP). We report a family with epilepsy due to DEPDC5 mutation and 2 definite cases of SUDEP within this family.

SUBMITTER: Nascimento FA 

PROVIDER: S-EPMC4811380 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature