Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

ABSTRACT:

Objective

To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the contribution of the identified gene to the pathogenicity of epilepsies by examining sequencing data from 2,772 additional patients.

Methods

We performed whole genome sequencing of 3 members of a GEFS+ family. Subsequently, whole exome sequencing data from 1,165 patients with epilepsy from the Epi4K dataset and 1,329 Australian patients with epilepsy from the Epi25 dataset were interrogated. Targeted resequencing was performed on 278 patients with febrile seizures or GEFS+ phenotypes. Variants were validated and familial segregation examined by Sanger sequencing.

Results

Eight p

SUBMITTER: Heron SE 

PROVIDER: S-EPMC8166436 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature