Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures. - Matsumoto A; Kasuya G; Tumurbaatar S; Masuda T; Wakabayashi K; Kawada M; Higashikuni Y; Muramatsu K; Nakajo K; Osaka H; Matsumura T (Journal of human genetics, 2026)