Variants in BSN gene associated with epilepsy with favourable outcome.

ABSTRACT:

Background

BSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. This study aims to explore the relationship between BSN variants and epilepsy.

Methods

Whole-exome sequencing was performed in a cohort of 313 cases (trios) with epilepsies of unknown causes. Additional cases with BSN variants were collected from China Epilepsy Gene V.1.0 Matching Platform. The Clinical Validity Framework of ClinGen was used to evaluate the relationship between BSN variants and epilepsy.

Results

Four pairs of compound heterozygous variants and one cosegregating heterozygous missense variant in BSN were identified in five unrelated families. These variants presented statistically higher

SUBMITTER: Ye T 

PROVIDER: S-EPMC10439262 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature