Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1

por Yoshida, Syun, Amamoto, Masano, Takahashi, Tomoyuki, Tomita, Ichiro, Yuge, Kotaro, Hara, Munetsugu, Iwama, Kazuhiro, Matsumoto, Naomichi, Matsuishi, Toyojiro
Publicado 2022

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

por Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Publicado 2020

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

por Kodama, Kazuo, Aoyama, Hiromi, Murakami, Yoshimi, Takanashi, Jun-ichi, Koshimizu, Eriko, Miyatake, Satoko, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Omata, Taku
Publicado 2023

Nonsense variants of STAG2 result in distinct congenital anomalies

por Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Publicado 2020

Clinical and genetic characteristics of patients with Doose syndrome

por Hinokuma, Nodoka, Nakashima, Mitsuko, Asai, Hideyuki, Nakamura, Kazuyuki, Akaboshi, Shinjiro, Fukuoka, Masataka, Togawa, Masami, Oana, Shingo, Ohno, Koyo, Kasai, Mariko, Ogawa, Chikako, Yamamoto, Kazuna, Okumiya, Kiyohito, Chong, Pin Fee, Kira, Ryutaro, Uchino, Shumpei, Fukuyama, Tetsuhiro, Shinagawa, Tomoe, Miyata, Yohane, Abe, Yuichi, Hojo, Akira, Kobayashi, Kozue, Maegaki, Yoshihiro, Ishikawa, Nobutsune, Ikeda, Hiroko, Amamoto, Masano, Mizuguchi, Takeshi, Iwama, Kazuhiro, Itai, Toshiyuki, Miyatake, Satoko, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro
Publicado 2020

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

por 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
Publicado 2019