Presentation Information
[O15-04]A Study of Epilepsy Cases with GABAA Receptor Mutations: Mutations and Clinical Characteristics
Takahashi Yukitoshi1,8, Masataka Fukuoka1, Kuniko Ida1, Taikan Ooboshi1, Hiroo Oomatsu1, Katsumi Imai1, Rumiko Takayama1, Daisuke Usui1, Akihiro Iguchi1, Mitsuhiro Miyashita1, Shinichi Hirose2, Mitsuhiro Kato3, Toshiyuki Yamamoto4, Tomohiro Saitsu5, Naoya Saijou6, Jun Takayama7, Atsuo Kikuchi6,7, Shigeo Kure6,7 (1. National epilepsy center, NHO, Shizuoka institute of epilepsy and neurological disorders, Shizuoka, Japan, 2. General Medical Research Center, School of Medicine, Fukuoka University, 3. Department of Pediatrics, Showa Medical University School of Medicine, Epilepsy Medical Center, Showa Medical University Hospital, 4. Institute of Medical Genetics, Tokyo Womens Medical University, 5. Department of Biochemistry, Hamamatsu University School of Medicine, 6. Department of Pediatrics, Tohoku University School of Medicine, 7. Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 8. Department of Pediatrics, Gifu Municipal hospital, Gifu, Japan)
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