Zobrazeno 1 - 10
of 431
pro vyhledávání: '"Benign infantile epilepsy"'
Autor:
Numoto, Shingo, Kurahashi, Hirokazu, Takagi, Mizuki, Azuma, Yoshiteru, Iwayama, Hideyuki, Okumura, Akihisa
Publikováno v:
In Seizure: European Journal of Epilepsy November 2021 92:207-210
Autor:
Okumura, Akihisa, Shimojima, Keiko, Kurahashi, Hirokazu, Numoto, Shingo, Shimada, Shino, Ishii, Atsushi, Ohmori, Iori, Takahashi, Satoru, Awaya, Tomonari, Kubota, Tetsuo, Sakakibara, Takafumi, Ishihara, Naoko, Hattori, Ayako, Torisu, Hiroyuki, Tohyama, Jun, Inoue, Takeshi, Haibara, Akiko, Nishida, Takuji, Yuhara, Yukihiro, Miya, Kazushi, Tanaka, Ryuta, Hirose, Shinichi, Yamamoto, Toshiyuki
Publikováno v:
In Seizure: European Journal of Epilepsy October 2019 71:1-5
Autor:
Chang Mi Kwon, Kye Hyang Lee
Publikováno v:
Annals of Child Neurology, Vol 29, Iss 4, Pp 202-204 (2021)
Externí odkaz:
https://doaj.org/article/8bcd39b957974306964091d918fd4294
Autor:
Chang Mi Kwon, Kye Hyang Lee
Publikováno v:
Annals of Child Neurology. 29:202-204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f994cd369344f04d38cf13ca657fb4c
https://doi.org/10.26815/acn.2021.00493
https://doi.org/10.26815/acn.2021.00493
Autor:
Toshiyuki Yamamoto, Takuji Nishida, Hiroyuki Torisu, Akihisa Okumura, Akiko Haibara, Yukihiro Yuhara, Naoko Ishihara, Takeshi Inoue, Kazushi Miya, Jun Tohyama, Hirokazu Kurahashi, Shino Shimada, Ayako Hattori, Shinichi Hirose, Takafumi Sakakibara, Keiko Shimojima, Satoru Takahashi, Tetsuo Kubota, Atsushi Ishii, Shingo Numoto, Tomonari Awaya, Ryuta Tanaka, Iori Ohmori
Publikováno v:
Seizure. 71:1-5
Purpose This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. Methods The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8053db418b35b64acf573e24b6713fb6
https://doi.org/10.1016/j.seizure.2019.05.017
https://doi.org/10.1016/j.seizure.2019.05.017
Akademický článek
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Autor:
Han, Ji Yoon1 (AUTHOR) han024@catholic.ac.kr, Cho, Yong Gon2,3 (AUTHOR) choyg@jbnu.ac.kr, Jo, Dae Sun3,4 (AUTHOR) drjo@jbnu.ac.kr, Park, Joonhong2,3 (AUTHOR) drjo@jbnu.ac.kr
Publikováno v:
International Journal of Molecular Sciences. Jan2024, Vol. 25 Issue 1, p253. 13p.
Publikováno v:
Journal of Pediatric Epilepsy. :035-040
The 16p11.2 microdeletion/microduplication syndrome is one of the most commonly observed genomic disorders derived from nonallelic homologous recombination surrounded by segmental duplications. Initially, the typical 16p11.2 microdeletions/microdupli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::811cc1ba96143e5c1ebcb75d9d6699c6
https://doi.org/10.1055/s-0035-1554790
https://doi.org/10.1055/s-0035-1554790
Autor:
Wieland Kiess, Konstanze Hörtnagel, Astrid Bertsche, Matthias K. Bernhard, Boris S. Zhorov, Johannes R. Lemke, Frauke Hornemann, Steffen Syrbe, Franz Wolfgang Hirsch, Ulrike Mütze, Andreas Merkenschlager, Jessica Hoffmann
Publikováno v:
Molecular Syndromology. 7:182-188
Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eafaaa710b4620a2df3be528ffb23db7
https://doi.org/10.1159/000447526
https://doi.org/10.1159/000447526
Akademický článek
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