1. De novo KCNT1 mutations in early‐onset epileptic encephalopathy. (3rd July 2015) Authors: Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Nobuya; Osaka, Hitoshi; Shiihara, Takashi; Tohyama, Jun; Nabatame, Shin; Azuma, Junji; Fujii, Yuji; Hara, Munetsugu; Tsurusawa, Reimi; Inoue, Takahito; Ogata, Reina; Watanabe, Yoriko; Togashi, Noriko; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yosh... Journal: Epilepsia Issue: Volume 56:issue 9(2015:Sep.) Page Start: e121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Issue 12 (16th August 2013) Authors: Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Issue 12 (16th August 2013) Authors: Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗