PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

ABSTRACT:

Objective

Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations. We report a novel autosomal recessive phenotype in a single family and identify the causative gene.

Methods

Whole exome sequencing data was used to map the family, thereby narrowing exome search space, and then to identify the mutation.

Results

Linkage analysis using exome sequence data from two affected and two unaffected subjects showed homozygous linkage peaks on chromosomes 7, 8, 13, and 14 with maximum LOD scores between 1.5 and 1.93. Exome variant filtering under these peaks revealed that the affected siblings were homozygous for a novel splice site mutation (c.93+2T>C) in the PRIMA1 gene on chromosome 14.

SUBMITTER: Hildebrand MS 

PROVIDER: S-EPMC4554443 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature