De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

著者: Akita, Tenpei, Aoto, Kazushi, Kato, Mitsuhiro, Shiina, Masaaki, Mutoh, Hiroki, Nakashima, Mitsuko, Kuki, Ichiro, Okazaki, Shin, Magara, Shinichi, Shiihara, Takashi, Yokochi, Kenji, Aiba, Kaori, Tohyama, Jun, Ohba, Chihiro, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
出版年 Ann Clin Transl Neurol (2018)

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

著者: Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, Matsumoto, Naomichi
出版年 Nat Commun (2019)