De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

Por Kanemasa, Hikaru, Fukai, Ryoko, Sakai, Yasunari, Torio, Michiko, Miyake, Noriko, Lee, Sooyoung, Ono, Hiroaki, Akamine, Satoshi, Nishiyama, Kei, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Saitsu, Hirotomo, Matsumoto, Naomichi, Hara, Toshiro
Publicado no BMC Neurol (2016)

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Por Saitsu, Hirotomo, Fukai, Ryoko, Ben-Zeev, Bruria, Sakai, Yasunari, Mimaki, Masakazu, Okamoto, Nobuhiko, Suzuki, Yasuhiro, Monden, Yukifumi, Saito, Hiroshi, Tziperman, Barak, Torio, Michiko, Akamine, Satoshi, Takahashi, Nagahisa, Osaka, Hitoshi, Yamagata, Takanori, Nakamura, Kazuyuki, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Publicado no Eur J Hum Genet (2016)