Ontology highlight
ABSTRACT:
SUBMITTER: Nascimento FA
PROVIDER: S-EPMC4811380 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Nascimento Fábio A FA Borlot Felippe F Cossette Patrick P Minassian Berge A BA Andrade Danielle M DM
Neurology. Genetics 20151015 4
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 DE ...[more]