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Variants of CACNA1G, which encodes Ca 3.1, have been reported to be associated with various neurological disorders. Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted. The electrophysiological properties of each mutant channel were investigated by voltage-clamp and current-clamp analyses of HEK293T cells overexpressing these channels. Two patients diagnosed with Rett syndrome and West syndrome were found to ha