title: UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.
abstract: The causal gene(s) for familial adult myoclonic epilepsy (FAME) remains undetermined. To identify it, an exome analysis was performed for the proband in a Japanese FAME family. Of the 383 missense/nonsense variants examined, only c.5720G>A mutation (p.Arg1907His) in the UBR5 gene was found in all of the affected individuals in the family, but not in the nonaffected members. Such mutation was not found in any of the 85 healthy individuals in the same community nor in any of the 24 individuals of various ethnicities. The present study demonstrated an FAME-associated mutation in the UBR5 gene, which is located close to the reported locus linked to Japanese FAME families.
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
authors.forename: Gen
authors.initials: G
authors.lastname: Tamiya
authors.forename: Shingo
authors.initials: S
authors.lastname: Koyama
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakamura
authors.forename: Satoshi
authors.initials: S
authors.lastname: Makino
authors.forename: Shigeki
authors.initials: S
authors.lastname: Arawaka
authors.forename: Toru
authors.initials: T
authors.lastname: Kawanami
authors.forename: Ikuo
authors.initials: I
authors.lastname: Tooyama