A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.

ABSTRACT:

Background

CaBP4 encodes Ca²⁺-binding protein 4, a neuronal Ca²⁺-binding protein that participates in many cellular processes by regulating the concentration of free Ca²⁺ ions. De novo CaBP4 variants have been identified as a cause of congenital stationary night blindness (CSNB). However, we recently reported a 4-generation pedigree with 11 individuals diagnosed with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) that were validated with only one novel missense mutation, c.464G>A (p.G155D), in CaBP4. De novo CaBP4 variants have never been reported to be related with ADNFLE. This study aimed to identify whether c.464G>A (p.G155D) in CaBP4 reduced the expression of CaBP4.

Methods

In vitr

SUBMITTER: Guo Y 

PROVIDER: S-EPMC8976675 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature