CACNA1B

Gene product: Voltage-Dependent N-Type Calcium Channel Subunit Alpha-1B.

Protein function: Mainly expressed in neural tissue, it participates in the composition of voltage-sensitive calcium ion channels and causes N-type calcium currents.

Phenotype: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (AR) [1].

Mutation database:  ClinVar.

Clinical research: PubMed (PMID: 30982612 (Am J Hum Genet)；37047073 (Int J Mol Sci)).

References:

1. Am J Hum Genet. 2019 May 2;104(5):948-956.