Dissecting the Role of CaV1.2 Dysfunction in the Pathogenesis of Autism Spectrum Disorder

Abstract

Autism Spectrum Disorder (ASD) is a neurological disorder characterized by repetitive, restricted behaviors, interests and activities along with a range of challenges in communication skills and social interaction. Pathway and genetic analyses have indicated a strong connection between ASD and the dysregulation of Ca2+ signaling. In particular, genetic mutations within the L-type Ca2+ channel (LTCC) have been shown to be causative of ASD. In fact, mutations within the CaV1.2 LTCC have been identified as one of the few monogenic causes of ASD, resulting in a multisystem disorder known as Timothy Syndrome (TS).