V25. Benign familial neonatal seizures and transient neonatal diabetes in a family with a mutation in ABCC8 encoding the SUR1 subunit of the ATP-sensitive potassium (K-ATP) channel

Abstract

Introduction Benign familial neonatal seizures (BFNS) are a distinct epilepsy syndrome with selflimited seizures starting in the first days of life. The majority of cases is caused by mutations in the genes KCNQ2 and KCNQ3, encoding the voltage gated potassium channels Kv7.2 and Kv7.3. Methods and results We report on a family (index patient and his mother) with a phenotype, consisting of benign neonatal convulsions in association with transient neonatal diabetes mellitus. Sequencing of neonatal diabetes-related genes revealed the mutation p.R1379H (c.4139G>A) in ABCC8, encoding the regulating sulfonylurea receptor subunit of the ATP-sensitive potassium channel. Discussion The mutation in our family has been previously described in patients with transient neonatal diabetes mellitus (TNDM) and maturity onset diabetes of the young. While mutations in the K-ATP channel are known to cause a severe neurological disorder with developmental delay, epilepsy and neonatal diabetes (DEND syndrome), our family is the first report of associated benign familial neonatal seizures.