In humans, heterozygous variants in CACNB4 (MIM: 601949) have been associated with different neurological phenotypes: a female patient with juvenile myoclonic epilepsy (JME) had the nonsense variant c.1444C>T/p.(Arg482*) (MIM: 607682), two members of a family displaying idiopathic generalized epilepsy with rare generalized tonic-clonic seizures carried the non-synonymous CACNB4 variant c.311G>T/p.(Cys104Phe), and in another family five individuals affected by episodic ataxia (MIM: 613855) as well as two healthy family members showed the p.(Cys104Phe) variant [15]. This evidence concerns the gene CACNB4 and Familial paroxysmal ataxia.