未登录Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2脊髓小脑发育不全9型，伴有AMPD2基因复合杂合新发变异的组合
Dohi, Shuhei; Hotta, Junko; Ito, Kosuke; Yamashita, Tomoyo; Ono, Chie; Sakuma, Satoru; Komatsu, Kazuyuki; Inoue, Ken; Saitsu, Hirotomo; Hamazaki, Takashi; Seto, Toshiyuki .png)
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收藏Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series难治性肌阵挛癫痫和进行性运动障碍源于日本患者中复发性DHDDS变异：一个病例系列Kobayashi, Yu; Sakuma, Satoru; Morimoto, Emiko; Fujii, Hitomi; Yamada, Kei; Hojo, Moemi; Miura, Masaki; Tohyama, Jun; Miya, Fuyuki; Kato, Mitsuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi 分享 收藏 Sleep Problems and Quality of Life in Children with Epilepsy Without Neurodevelopmental DisordersYazaki, Kotaro; Sakuma, Satoru; Shirokihara, Yuuto; Inutsuka, Kayo; Imamura, Takuji; Mihara, Takenao; Tachibana, Naoko; Kondo, Kyoko; Fukushima, Wakaba; Hamazaki, Takashi 分享 收藏 Predictive modeling based on functional connectivity of interictal scalp EEG for infantile epileptic spasms syndrome基于发作间期头皮脑电图功能连通性的婴儿癫痫痉挛综合征预测模型Kanai, Sotaro; Oguri, Masayoshi; Okanishi, Tohru; Miyamoto, Yosuke; Maeda, Masanori; Yazaki, Kotaro; Matsuura, Ryuki; Tozawa, Takenori; Sakuma, Satoru; Chiyonobu, Tomohiro; Hamano, Shin-ichiro; Maegaki, Yoshihiro 分享 收藏 Quantitative pretreatment EEG predicts efficacy of ACTH therapy in infantile epileptic spasms syndrome定量预处理脑电图预测ACTH治疗婴儿癫痫痉挛综合征的疗效Kanai, Sotaro; Oguri, Masayoshi; Okanishi, Tohru; Miyamoto, Yosuke; Maeda, Masanori; Yazaki, Kotaro; Matsuura, Ryuki; Tozawa, Takenori; Sakuma, Satoru; Chiyonobu, Tomohiro; Hamano, Shin-ichiro; Maegaki, Yoshihiro 分享 收藏 分享 收藏 分享 收藏 Increased subcortical oligodendroglia-like cells in pharmacoresistant focal epilepsy in children correlate with extensive epileptogenic zonesSakuma, Satoru; Halliday, William C.; Nomura, Ruka; Baba, Shiro; Sato, Yosuke; Okanari, Kazuo; Nakajima, Midori; Widjaja, Elysa; Boelman, Cyrus; Ochi, Ayako; Snead, O. Carter; Rutka, James T.; Drake, James; Miller, Steven; Otsubo, Hiroshi 分享 收藏 Remote MEG dipoles in focal cortical dysplasia at bottom of sulcusNakajima, Midori; Widjaja, Elysa; Baba, Shiro; Sato, Yosuke; Yoshida, Ryuhei; Tabei, Maya; Okazaki, Ayaka; Sakuma, Satoru; Holowka, Stephanie A.; Ochi, Ayako; Snead, O. Carter, III; Rutka, James T.; Drake, James M.; Shiraishi, Hideaki; Doesburg, Sam; Otsubo, Hiroshi 分享 收藏 Rapid eye movement sleep reveals epileptogenic spikes for resective surgery in children with generalized interictal dischargesOkanari, Kazuo; Baba, Shiro; Otsubo, Hiroshi; Widjaja, Elysa; Sakuma, Satoru; Go, Cristina Y.; Jones, Kevin C.; Nishioka, Kazuki; Oba, Shimpei; Matsui, Tasuku; Ueno, Makoto; Ukitsu, Shogo; Rutka, James T.; Drake, James M.; Donner, Elizabeth J.; Weiss, Shelly K.; Snead, O. Carter, III; Ochi, Ayako 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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