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Localized focal cortical dysplasia type II: seizure freedom with lesionectomy guided by MRI and FDG-PET Usui, Naotaka; Kondo, Akihiko; Matsuda, Kazumi; Ogawa, Hiroshi; Nishida, Takuji; Tokumoto, Kentaro; Kawaguchi, Norihiko; Matsudaira, Takashi; Araki, Yasukiyo; Fukuoka, Masataka; Omatsu, Hirowo; Otani, Hideyuki; Yamaguchi, Tokito; Imai, Katsumi; Takahashi, Yukitoshi 分享 收藏
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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development Chung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Vong, Keng Ioi; Mittal, Swapnil H.; Donkels, Catharina; Westley Phillips, H.; Li, Zhen; Marsh, Ashley P. L.; Breuss, Martin; Ball, Laurel; Garcia, Camila Araujo Bernardino; George, Renee; Gu, Jing; Xu, Mingchu; Barrows, Chelsea; James, Kiely; Stanley, Valentina; Nidhiry, Anna; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xu, Xin; Copeland, Brett; Wang, Yifan G.; Kim, Se Hoon L.; Kang, Hoon-Chul W.; Schulze-Bonhage, Andreas; Haas, Carola; Urbach, Horst; Prinz, Marco; Limbrick, David A.; Gurnett, Christina; Smyth, Matthew C.; Sattar, Shifteh M.; Nespeca, Mark B.; Gonda, David V.; Imai, Katsumi Y.; Takahashi, Yukitoshi E.; Chen, Hsin-Hung B.; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Silva, Wilson; Machado, Helio M.; Mathern, Gary; Abyzov, Alexej; Baldassari, Sara; Baulac, Stephanie; Gleeson, Joseph G. 分享 收藏
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate Suzuki, Toshimitsu; Tatsukawa, Tetsuya; Sudo, Genki; Delandre, Caroline; Pai, Yun Jin; Miyamoto, Hiroyuki; Raveau, Matthieu; Shimohata, Atsushi; Ohmori, Iori; Hamano, Shin-ichiro; Haginoya, Kazuhiro; Uematsu, Mitsugu; Takahashi, Yukitoshi; Morimoto, Masafumi; Fujimoto, Shinji; Osaka, Hitoshi; Oguni, Hirokazu; Osawa, Makiko; Ishii, Atsushi; Hirose, Shinichi; Kaneko, Sunao; Inoue, Yushi; Moore, Adrian Walton; Yamakawa, Kazuhiro 分享 收藏
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Sirolimus for epileptic seizures associated with focal cortical dysplasia type II Kato, Mitsuhiro; Kada, Akiko; Shiraishi, Hideaki; Tohyama, Jun; Nakagawa, Eiji; Takahashi, Yukitoshi; Akiyama, Tomoyuki; Kakita, Akiyoshi; Miyake, Noriko; Fujita, Atsushi; Saito, Akiko M.; Inoue, Yushi 分享 收藏
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; D'Augeres, Guillaume B.; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J. Chris 分享 收藏
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Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses 使用外显子组数据有效检测拷贝数变异: 基于批次和性别的分析 Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Takayoshi; Takahashi, Yukitoshi; Tanda, Koichi; Hyodo, Yuki; Honjo, Rachel S.; Bertola, Debora Romeo; Kim, Chong Ae; Goto, Masahide; Okazaki, Tetsuya; Yamada, Hiroyuki; Maegaki, Yoshihiro; Osaka, Hitoshi; Ngu, Lock-Hock; Siew, Ch'ng G.; Teik, Keng W.; Akasaka, Manami; Doi, Hiroshi; Tanaka, Fumiaki; Goto, Tomohide; Guo, Long; Ikegawa, Shiro; Haginoya, Kazuhiro; Haniffa, Muzhirah; Hiraishi, Nozomi; Hiraki, Yoko; Ikemoto, Satoru; Daida, Atsuro; Hamano, Shin-ichiro; Miura, Masaki; Ishiyama, Akihiko; Kawano, Osamu; Kondo, Akane; Matsumoto, Hiroshi; Okamoto, Nobuhiko; Okanishi, Tohru; Oyoshi, Yukimi; Takeshita, Eri; Suzuki, Toshifumi; Ogawa, Yoshiyuki; Handa, Hiroshi; Miyazono, Yayoi; Koshimizu, Eriko; Fujita, Atsushi; Takata, Atsushi; Miyake, Noriko; Mizuguchi, Takeshi; Matsumoto, Naomichi 分享 收藏
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project de Vries, Petrus J.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; Beure d'Augeres, Guillaume; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, J. Chris; Jansen, Anna C. 分享 收藏
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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy 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 分享 收藏
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study de Vries, Petrus J.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augeres, Guillaume B.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Kingswood, J. Chris; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna C. 分享 收藏
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