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CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.
Takahashi S, Takeguchi R, Tanaka R, Fukuoka M, Koike T, Ohtani H, Inoue K, Fukuda M, Kurahashi H, Nakamura K, Tominaga K, Matsubayashi T, Itoh M, Tanaka T. Takahashi S, et al. Among authors: kurahashi h. J Neurol Sci. 2022 Dec 15;443:120498. doi: 10.1016/j.jns.2022.120498. Epub 2022 Nov 16. J Neurol Sci. 2022. PMID: 36417806
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T. Okumura A, et al. Among authors: kurahashi h. Seizure. 2019 Oct;71:1-5. doi: 10.1016/j.seizure.2019.05.017. Epub 2019 May 20. Seizure. 2019. PMID: 31154286 Free article.
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.
Okumura A, Atsushi Ishii, Shimojima K, Kurahashi H, Yoshitomi S, lmai K, Imamura M, Seki Y, Toshiaki Shimizu T, Hirose S, Yamamoto T. Okumura A, et al. Among authors: kurahashi h. Epileptic Disord. 2015 Jun;17(2):165-71. doi: 10.1684/epd.2015.0746. Epileptic Disord. 2015. PMID: 26030193 Free article.
Fournier's gangrene during ACTH therapy.
Numoto S, Kurahashi H, Azuma Y, Numaguchi A, Nakahara K, Tainaka T, Takasu M, Yamakawa K, Nago N, Muto T, Kitagawa Y, Okumura A. Numoto S, et al. Among authors: kurahashi h. Brain Dev. 2017 May;39(5):435-438. doi: 10.1016/j.braindev.2016.11.012. Epub 2016 Dec 20. Brain Dev. 2017. PMID: 28007393
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: kurahashi h. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N. Yamamoto T, et al. Among authors: kurahashi h. Brain Dev. 2019 Oct;41(9):776-782. doi: 10.1016/j.braindev.2019.05.007. Epub 2019 Jun 4. Brain Dev. 2019. PMID: 31171384
450 results