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):
Material:
Volume: 50  Issue: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)
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Thesaurus term/Semi thesaurus term
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On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
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JST classification (2):
JST classification
Category name(code) classified by JST.
Gynecologic and obstetrical diseases  ,  Nervous system diseases 
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
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