大阪市立総合医療センター小児青年てんかん診療センターのグループから、
「Quinidine therapy for West syndrome with KCNTI mutation: A case report.」
の論文が、Brain and Development という英文誌に発表されました。私も臨床面で一端に関わらせていただき共同著者として名前を連ねていただきました。この疾患にたいして着目されている新しい治療の症例報告です。
Brain Dev. 2016 Aug 28. pii: S0387-7604(16)30106-1. doi: 10.1016/j.braindev.2016.08.002. [Epub ahead of print]
Quinidine therapy for West syndrome with KCNT1 mutation : A case report.
Fukuoka M1, Kuki I2, Kawawaki H1, Okazaki S1, Kim K1, Hattori Y1, Tsuji H1, Nukui M1, Inoue T1, Yoshida Y3, Uda T4, Kimura S5, Mogami Y5, Suzuki Y5,Okamoto N6, Saitsu H7, Matsumoto N8.
- 1Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
- 2Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan. Electronic address: i-kuki@med.osakacity-hp.or.jp.
- 3Department of Pediatric Electrophysiology, Osaka City General Hospital, Osaka, Japan.
- 4Department of Neurosurgery, Osaka City University Graduate School of Medicine, Osaka, Japan.
- 5Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
- 6Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
- 7Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
- 8Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
