A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele.

ABSTRACT: P/Q-type Ca²⁺ flux into nerve terminals via Ca_V2.1 channels is essential for neurotransmitter release at neuromuscular junctions and nearly all central synapses. Mutations in CACNA1A, the gene encoding Ca_V2.1, cause a spectrum of pediatric neurological disorders. We have identified a patient harboring an autosomal-dominant de novo frameshift-causing nucleotide duplication in CACNA1A (c.5018dupG). The duplicated guanine precipitated 43 residues of altered amino acid sequence beginning with a glutamine to serine substitution in Ca_V2.1 at position 1674 ending with a premature stop codon (Ca_V2.1 p.Gln1674Serfs*43). The patient presented with episodic downbeat vertical nystagmus, hypotonia, ataxia, developmental

SUBMITTER: Kramer AA 

PROVIDER: S-EPMC10020665 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature