UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family. (17th September 2012)

• Record Type: Journal Article
• Authors: Kato, Takeo; Tamiya, Gen; Koyama, Shingo; Nakamura, Tomohiro; Makino, Satoshi; Arawaka, Shigeki; Kawanami, Toru; Tooyama, Ikuo
• Other Names: Hsu C.-Y. Academic Editor.; Mathieu D. Academic Editor.; Meco G. Academic Editor.
• Is Part Of: ISRN neurology. Volume 2012(2012)
• Publication Date: 2012-09-17
• Subjects: Neurology -- Periodicals; Nervous System Diseases; Neurology; Neurology; Periodicals; 616.8
• DOI: 10.5402/2012/508308
• Languages: English
• ISSNs: 2090-5505

Abstract

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.