Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: Epilepsy and PRRT2[original query] |
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Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes, brain, and behavior 2013 Mar 12 (2): 234-40. Liu X-R, Wu M, He N, Meng H, Wen L, Wang J-L, Zhang M-P, Li W-B, Mao X, Qin J-M, Li B-M, Tang B, Deng Y-H, Shi Y-W, Su T, Yi Y-H, Tang B-S, Liao W |
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012 Oct . Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H |
PRRT2 mutations cause hemiplegic migraine. Neurology 2012 Oct . Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E |
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. Brain & development 2012 Oct . Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S |
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 May 54 (5): e86-9. Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne |
PRRT2 mutations: exploring the phenotypical boundaries. Journal of neurology, neurosurgery, and psychiatry 2014 Apr 85 (4): 462-5. Djémié Tania, Weckhuysen Sarah, Holmgren Philip, Hardies Katia, Van Dyck Tine, Hendrickx Rik, Schoonjans An-Sofie, Van Paesschen Wim, Jansen Anna C, De Meirleir Linda, Selim Laila Abdel Moteleb, Girgis Marian Y, Buyse Gunnar, Lagae Lieven, Smets Katrien, Smouts Iris, Claeys Kristl G, Van den Bergh Vic, Grisar Thierry, Blatt Ilan, Shorer Zamir, Roelens Filip, Afawi Zaid, Helbig Ingo, Ceulemans Berten, De Jonghe Peter, Suls Arv |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013 Jan . Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglilatela M, Coviello DA, Vigevano F, Minetti C |
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations. Epilepsy research 2015 Sep 118 10-13. Sangu Noriko, Shimojima Keiko, Akihisa Okumura, Ando Tomohiro, Yamamoto Toshiyu |
Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population. The International journal of neuroscience 2016 Mar 1-11. Che Xiang-Qian, Sun Zhan-Fang, Mao Xiao, Xia Kun, Yan Xin-Xiang, Jiang Hong, Shen Lu, Li Nan, Tang Bei-S |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. Journal of human genetics 2017 Nov . Zeng Qi, Yang Xiaoling, Zhang Jing, Liu Aijie, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel. Frontiers in neurology 2018 7 9 515. Tsai Meng-Han, Chan Chung-Kin, Chang Ying-Chao, Lin Chih-Hsiang, Liou Chia-Wei, Chang Wen-Neng, Ng Ching-Ching, Lim Kheng-Seang, Hwang Daw-Ya |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. Seizure 2019 6 71 1-5. 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 Toshiyu |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 7 28 193-197. Balagura Ganna, Riva Antonella, Marchese Francesca, Iacomino Michele, Madia Francesca, Giacomini Thea, Mancardi Maria Margherita, Amadori Elisabetta, Vari Maria Stella, Salpietro Vincenzo, Russo Angelo, Messana Tullio, Vignoli Aglaia, Chiesa Valentina, Giordano Lucio, Accorsi Patrizia, Caffi Lorella, Orsini Alessandro, Bonuccelli Alice, Santucci Margherita, Vecchi Marilena, Vanadia Francesca, Milito Giuseppe, Fusco Carlo, Cricchiutti Giovanni, Carpentieri Marilisa, Margari Lucia, Spalice Alberto, Beccaria Francesca, Benfenati Fabio, Zara Federico, Striano Pasqua |
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology 2021 6 144 (12): 3623-3634. Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji |
Epilepsy in patients with familial hemiplegic migraine. Seizure 2021 4 88 87-94. Has?rc? Bay?r Buse Rahime, Tutkavul Kemal, Eser Metin, Baykan Bet |
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions. Frontiers of medicine 2021 11 15 (6): 877-886. Chen Yulan, Chen Dianfu, Zhao Shaoyun, Liu Gonglu, Li Hongfu, Wu Zhi-Yi |
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. Neurology 2021 10 98 (1): e51-e61. Riant Florence, Roos Caroline, Roubertie Agathe, Barbance Cécile, Hadjadj Jessica, Auvin Stéphane, Baille Guillaume, Beltramone Marion, Boulanger Cécile, Cahn Alice, Cata Florina, Cheuret Emmanuel, Cuvellier Jean-Christophe, Defo Antoine, Demarquay Genevieve, Donnet Anne, Gaillard Nicolas, Massardier Evelyne, Guy Nathalie, Lamoureux Sylvie, Le Moigno Laurence, Lucas Christian, Ratiu Diana, Redon Sylvain, Rey Caroline, Thauvin Christel, Viallet François, Tournier-Lasserve Elisabeth, Ducros An |
Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
[Characterization of genetic variants in children with refractory epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 9 40 (10): 1204-1210. Kaixuan Wang, Dandan Cai, Fang Sheng, Dayan Wang, Xubo Qian, Jing Zhang, Xueyan Jiang, Lidan Xu, Yanting |
Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy. BMC pediatrics 2023 10 23 (1): 529. Yang Tian, Zhen Shi, Jiahao Cai, Chi Hou, Xiuying Wang, Haixia Zhu, Binwei Peng, Kaili Shi, Xiaojing Li, Sitang Gong, Wen-Xiong Ch |
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- Page last updated:Apr 22, 2024
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