The most deleterious variants detected in the CACNA1G and CACNA1H genes, encoding Cav3.1 and Cav3.2, respectively, represent de novo gain-of-function missense mutations causing congenital severe motor and cognitive impairment with cerebellar atrophy and primary aldosteronism, respectively.11–13. Here, CACNA1H is linked to Cerebellar atrophy.