Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.

Abstract excerpt

Mutations in CACNA1C, the gene encoding Cav1.2 voltage-gated calcium channels, are associated with a spectrum of disorders, including Timothy syndrome and other neurodevelopmental and cardiac conditions. In this study, we report a child with a de novo heterozygous missense variant (c.1973T > C; L658P) in CACNA1C, presenting with refractory epilepsy, global developmental delay, hypotonia, and multiple systemic...

Topics

• Humans
• Calcium Channels, L-Type
• Neurodevelopmental Disorders
• Models, Molecular
• Male
• Ion Channel Gating