Art

J-GLOBAL ID：200902204563228225   Reference number：08A0401176

Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion

良性家族性新生児けいれんを呈する1日本人家族におけるKCNQ2遺伝子の生殖細胞系列変異,p.R213W

Author (10)： SADEWA Ahmad H. (Kobe Univ. Graduate School of Medicine, Kobe) ,  SASONGKO Teguh H. (Kobe Univ. Graduate School of Medicine, Kobe) ,  GUNADI (Kobe Univ. Graduate School of Medicine, Kobe) ,  LEE Myeong J. (Kobe Univ. Graduate School of Medicine, Kobe) ,  DAIKOKU Kazunari (Ootake Hospital, Hiroshima) ,  YAMAMOTO Akiyo (Hyogo Prefectural Children’s Hospital) ,  YAMASAKI Takemi (Hyogo Prefectural Children’s Hospital) ,  TANAKA Shigenori (Kobe Univ. Graduate School of Sci. and Technol.) ,  MATSUO Masafumi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NISHIO Hisahide (Kobe Univ. Graduate School of Medicine, Kobe)
Material： Pediatrics International  (Pediatr Int)
Volume： 50  Issue： 2  Page： 167-171  Publication year： Apr. 2008 
JST Material Number： W1358A  ISSN： 1328-8067  Document type： Article
Article type： 原著論文  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *良性家族性新生児けいれん ,...

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JST classification (2)： Gynecologic and obstetrical diseases  (GS03000D) ,  Nervous system diseases  (GN03000O)

Reference (27)：

• KAPLAN, RE. Benign familial neonatal-infantile seizures. Am. J. Med. Genet. 1983, 16, 595-599
• RONEN, GM. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology. 1993, 43, 1355-1360
• BORGATTI, R. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 2004, 63, 57-65
• LEPPERT, M. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature. 1989, 337, 647-648
• MALAFOSSE, A. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum. Genet. 1992, 89, 54-58

Terms in the title (7)： 家族 ,  新生児けいれん ,  日本人 ,  KCNQ2遺伝子 ,  生殖 ,  細胞系列 ,  変異