CACNB4 and juvenile myoclonic epilepsy: In humans, various neurological phenotypes are linked with heterozygous mutation reported in CACNB4 (MIM: 601949), such as a female patient, having the juvenile myoclonic epilepsy (JME) was reported with nonsense mutation c.1444C>T leading to the frameshift where the protein p.Arg482* (MIM: 607682).