Art

J-GLOBAL ID：201302260408599209   Reference number：13A1144554

PRRT2 mutation in Japanese children with benign infantile epilepsy

良性乳児てんかんの日本人小児におけるPRRT2変異

Author (13)： OKUMURA Akihisa (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  SHIMOJIMA Keiko (Tokyo Womens’ Medical Univ., Inst. for Integrated Medical Sciences, JPN) ,  KUBOTA Tetsuo (Dep. of Pediatrics, Anjo Kosei Hospital, JPN) ,  ABE Shinpei (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  YAMASHITA Shintaro (Dep. of Pediatrics, Juntendo Nerima Hospital, JPN) ,  IMAI Katsumi (National Epilepsy Center, Shizuoka Inst. of Epilepsy and Neurological Disorders, JPN) ,  OKANISHI Tohru (Dep. of Child Neurology, Seirei Hamamatsu General Hospital, JPN) ,  ENOKI Hideo (Dep. of Child Neurology, Seirei Hamamatsu General Hospital, JPN) ,  FUKASAWA Tatsuya (Dep. of Pediatrics, Anjo Kosei Hospital, JPN) ,  TANABE Takuya (Tanabe-Kadobayashi Children’s Clinic, JPN) ,  DIBBENS Leanne M. (Epilepsy Res. Program, School of Pharmacy and Medical Sciences, Univ. of South Australia, AUS) ,  SHIMIZU Toshiaki (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  YAMAMOTO Toshiyuki (Tokyo Womens’ Medical Univ., Inst. for Integrated Medical Sciences, JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 35  Issue： 7  Page： 641-646  Publication year： Aug. 2013 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *genetic variation ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=13A1144554&from=J-GLOBAL&jstjournalNo=W0814A") }}

JST classification (1)： Nervous system diseases  (GN03000O)

Reference (27)：

• Okumura A, Watanabe K, Negoro T, Hayakawa F, Kakumurto T, Maruyama K, et al. Long-term follow-up of patients with benign partial epilepsy in infancy. Epilepsia 2006;47:181-5.
• Watanabe K, Okumura A. Benign partial epilepsies in infancy. Brain Dev 2000;22:296-300.
• Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010;133:1403-14.
• Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-5.
• Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-60.

Terms in the title (4)： 乳児てんかん ,  日本人 ,  小児 ,  変異