Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation
FA Nascimento, F Borlot, P Cossette… - Neurology …, 2015 - AAN Enterprises
Neurology: Genetics, 2015•AAN Enterprises
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 …
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 …
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.
American Academy of Neurology