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De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N. Ohba C, et al. Among authors: shiihara t. Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3. Epilepsia. 2015. PMID: 26140313 Free article.
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: shiihara t. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949
Costello syndrome showing moyamoya-like vasculopathy.
Shiihara T, Kato M, Mitsuhashi Y, Hayasaka K. Shiihara T, et al. Pediatr Neurol. 2005 May;32(5):361-3. doi: 10.1016/j.pediatrneurol.2004.12.010. Pediatr Neurol. 2005. PMID: 15866441
72 results