De novo KCNB1 mutations in epileptic encephalopathy.

ABSTRACT:

Objective

Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism.

Methods

We searched for de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known etiology to determine the underlying cause using high-coverage whole exome sequencing (WES) and lower-coverage whole genome sequencing. Mutations in additional patients were identified by WES. The effect of mutations on protein function was assessed in a heterologous expression system.

Results

We identified a de novo missense mutation in KCNB1 that encodes the KV 2.1 voltage-gated potassium channel. Fun

SUBMITTER: Torkamani A 

PROVIDER: S-EPMC4192091 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature