Humans contain two choline kinase isoforms, CHKA and CHKB. Variants in the CHKA gene that decrease enzymatic activity have been shown to cause an inherited neurodevelopmental disorder with epilepsy, while recessive inheritance of nonfunctional CHKB alleles causes an inherited rostrocaudal muscular dystrophy (1, 2). The gene discussed is CHKA; the disease is epilepsy.