ATP6V1A and cutis laxa: A total of 31 pathogenic missense variants of ATP6V1A have been described in the literature, of which 21 variants are related to epileptic encephalopathy, 5 variants are found in patients with cutis laxa carrying ATP6V1A homozygous or compound heterozygous mutations, and the remaining 5 variants are from the cohort study of autism and encephalopathy.