ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.

ABSTRACT:

Purpose

To identify novel genetic causes of febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+).

Methods

We performed whole-exome sequencing in a cohort of 32 families, in which at least two individuals were affected by FS or EFS+. The probands, their parents, and available family members were recruited to ascertain whether the genetic variants were co-segregation. Genes with repetitively identified variants with segregations were selected for further studies to define the gene-disease association.

Results

We identified two heterozygous ATP6V0C mutations (c.64G > A/p.Ala22Thr and c.361_373del/p.Thr121Profs*7) in two unrelated families with six individuals affected by FS or EFS+. The missense mutation was located in the proteolipid c-ring that c

SUBMITTER: Tian Y 

PROVIDER: S-EPMC9120599 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature