Voltage-Gated Ca²⁺-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

ABSTRACT: This review summarizes our current knowledge of human disease-relevant genetic variants within the family of voltage gated Ca²⁺ channels. Ca²⁺ channelopathies cover a wide spectrum of diseases including epilepsies, autism spectrum disorders, intellectual disabilities, developmental delay, cerebellar ataxias and degeneration, severe cardiac arrhythmias, sudden cardiac death, eye disease and endocrine disorders such as congential hyperinsulinism and hyperaldosteronism. A special focus will be on the rapidly increasing number of de novo missense mutations identified in the pore-forming α1-subunits with next generation sequencing studies of well-defined patient cohorts. In contrast to likely gene disrupting mutations these can not only cause a channel loss-of-funct

SUBMITTER: Striessnig J 

PROVIDER: S-EPMC7966529 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature