Episodic ataxia and JME are due to the heterozygous mutation in the form of missense variant p.Cys104Phe and nonsense variant p.Arg482* in CACNB4 leading to the disease and it was a rare mutation that was found non-Finnish European only in a single individual (15). The gene discussed is CACNB4; the disease is juvenile myoclonic epilepsy.