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of 58
pro vyhledávání: '"Benign infantile epilepsy"'
Akademický článek
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Autor:
Chang Mi Kwon, Kye Hyang Lee
Publikováno v:
Annals of Child Neurology. 29:202-204
Autor:
Akihisa Okumura, Chikako Ogawa, Tetsuo Kubota, Hirokazu Kurahashi, Yuji Ito, Shunsuke Ogaya, Shinji Saitoh, Ayako Hattori, Motomasa Suzuki, Takeshi Tsuji, Naoko Ishihara, Hiroyuki Kidokoro, Jun Natsume, Tatsuya Fukasawa
Publikováno v:
Pediatric Neurology. 109:79-84
Objective To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. Study design We investigated clinical and diffusion-we
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
Autor:
総説, 関西福祉科学大学 教育学部, 信州大学学術研究院 教育係
Publikováno v:
関西福祉科学大学紀要 = Journal of Kansai University of Welfare Sciences. 23:21-54
Autor:
Steffi Patzer, Konrad Platzer, Birgit Zirn, Trine Bjørg Hammer, Ingo Borggräfe, Johannes R. Lemke, Wibke G. Janzarik, Michaela Bonfert, K. Brockmann, Hermann Kühne, Kevin Rostasy, Joana Larupa Santos, Steffen Syrbe, Oliver Maier, Laura Ehrhardt, Hiltrud Muhle, Georg F. Hoffmann, Stefan Kölker, Jan Henje Döring, Philip J. Broser, Adam Strzelczyk, Afshin Saffari, Marco Henneke, Andreas Merkenschlager, Markus Wolff, Gerhard Kluger, Eva Matzker, Birgit Stark, Walid Fazeli, Rikke S. Møller, Thomas Bast, Yvonne G. Weber, Anette Hasse-Wittmer, Celina von Stülpnagel, Iben Bache, Astrid Bertsche, Hans Hartmann, Alexandre N. Datta, Joachim Opp
Publikováno v:
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456, pp. 1-14 . https://doi.org/10.3390/biomedicines8110456
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
BASE-Bielefeld Academic Search Engine
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
BASE-Bielefeld Academic Search Engine
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456
Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886cd8b036616df0ed676ae6cdf586a2
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837
Autor:
Fang Luo, Dongqing Zhang, Na Xu, Yufen Li, Junli Yang, Liyun Xu, Xia Li, Li Yang, Cuiping You, Feng Liu, Yue Niu, Xiaofan Yang, Baomin Li, Shiyan Qiu
Publikováno v:
Brain and Behavior, Vol 10, Iss 5, Pp n/a-n/a (2020)
Brain and Behavior
Brain and Behavior
Background Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2‐related mutations in Chinese epileps
Publikováno v:
Braindevelopment. 42(8)
This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children.We retrospectively reviewed the medical charts of pediatric PKD patients (aged16 years) treated with LCM. D
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Akademický článek
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