良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)

• SADEWA Ahmad H.

  Department of Public Health, Kobe University Graduate School of Medicine

• SASONGKO Teguh H.

  Department of Public Health, Kobe University Graduate School of Medicine

• Gunadi

  Department of Public Health, Kobe University Graduate School of Medicine

• LEE Myeong J.

  Department of Public Health, Kobe University Graduate School of Medicine

• DAIKOKU Kazunari

  Department of Pediatrics, Ootake Hospital

• YAMAMOTO Akiyo

  Hyogo Prefectural Children's Hospital

• YAMASAKI Takemi

  Hyogo Prefectural Children's Hospital

• TANAKA Shigenori

  Kobe University Graduate School of Science and Technology

• MATSUO Masafumi

  Department of Pediatrics, Kobe University Graduate School of Medicine

• NISHIO Hisahide

  Department of Public Health, Kobe University Graduate School of Medicine

Bibliographic Information

Other Title

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

Journal

• Pediatrics international : official journal of the Japan Pediatric Society

  Pediatrics international : official journal of the Japan Pediatric Society 50 (2), 167-171, 2008-04-01

Keywords

• benign familial neonatal convulsion
• BFNC
• germ-line mutation
• KCNQ2
• KCNQ3

Details

• CRID: 1570572700647572224
• NII Article ID: 10021947309
• NII Book ID: AA11320483
• ISSN: 13288067
• Text Lang: en
• Data Source:
  • CiNii Articles