De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies

Introduction: Variants of CACNA1G, which encodes CaV3.1, have been reported to be associated with various neurological disorders.Methods: Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted. The electrophysiological properties of each mutant channel were investigated by voltage-clamp and current-clamp analyses of HEK293T cells overexpressing these channels.Results: Two patients diagnosed with Rett syndrome and West syndrome were found to have known pathological CACNA1G mutations reported in cerebellar ataxia cohorts: c.2881G  > A, p.(Ala961Thr) and c.4591A > G, p.(Met1531Val), respectively.

Source: Journal of the Neurological Sciences - July 15, 2020 Category: Neurology Authors: Misako Kunii, Hiroshi Doi, Shunta Hashiguchi, Toyojiro Matsuishi, Yasunari Sakai, Mizue Iai, Masaki Okubo, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Hideyuki Takeuchi, Taro Ishikawa, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumot Source Type: research