Research field (4):
Neurology
, Metabolism and endocrinology
, Fetal medicine/Pediatrics
, Genetics
Research keywords (2):
てんかん
, 発達性てんかん性脳症
Papers (126):
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, et al. The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Human genome variation. 2023. 10. 1. 20-20
Hideaki Shiraishi, Tsuyoshi Teramoto, Saki Yokoshiki, Jun Tohyama, Yuki Ueda, Kiyoshi Egawa, Norihiro Sato, Atsushi Manabe, Mitsuhiro Kato. Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II. BRAIN & DEVELOPMENT. 2023. 45. 6. 343-347
Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, et al. An integrated genetic analysis of epileptogenic brain malformed lesions. Acta Neuropathologica Communications. 2023. 11. 1
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, et al. Molecular diagnosis of 405 individuals with autism spectrum disorder. European Journal of Human Genetics. 2023. in press
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, et al. Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. 2022. 24. 12. 2453-2463