Electrophysiological classification of <i>CACNA1G</i> gene variants associated with neurodevelopmental and neurological disorders.

ABSTRACT: This study highlights the complementarity of automated patch-clamp (APC) and manual patch-clamp (MPC) approaches to describe the electrophysiological properties of eighteen Ca_v3.1 calcium channel variants associated with various neurological conditions. Current density was measured efficiently for all variants in APC experiments, with four variants (p.V184G, p.N1200S, p.S1263A and p.D2242N) showing elevated current densities, compared to wild-type Ca_v3.1 channel, while six variants (p.M197R, p.V392M, p.F956del, p.I962N, p.I1412T, and p.G1534D) displayed reduced current densities, and were therefore preferentially studied using MPC. The electrophysiological properties were well preserved in APC (e.g., inactivation and deactivation kinetics, steady-state properties), wi

SUBMITTER: Davakan A 

PROVIDER: S-EPMC12528054 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature