Pathogenic gating pore current conducted by autism-related mutations in the Na_V1.2 brain sodium channel.

ABSTRACT: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social and communication deficits and repetitive behaviors. The genetic heterogeneity of ASD presents a challenge to the development of an effective treatment targeting the underlying molecular defects. ASD gating charge mutations in the KCNQ/K_V7 potassium channel cause gating pore currents (I_gp) and impair action potential (AP) firing of dopaminergic neurons in brain slices. Here, we investigated ASD gating charge mutations of the voltage-gated SCN2A/Na_V1.2 brain sodium channel, which ranked high among the ion channel genes with mutations in individuals with ASD. Our results show that ASD mutations in the gating charges R2 in Domain-II (R853Q), and R1 (R

SUBMITTER: Eltokhi A 

PROVIDER: S-EPMC11009634 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature