The causative gene for EA8 (OMIM: 616055, ORPHA:401953) is mapped to chromosome 1p36.13-p34.3 and the suspected gene is ubiquitin protein ligase E3 component N-recognin 4 (UBR4) encoding E3 ubiquitin-protein ligase UBR4. This evidence concerns the gene UBR4 and episodic ataxia type 8.