Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and PRRT2[original query] |
---|
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 |
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 |
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 |
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 |
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 |
[Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (5): 612-616. Pengwu Lin, Xuan Feng, Shengju Hao, Chunyang Jia, Hairui Pan, Chuan Zhang, Ling Hui, Qinghua Zha |
- Page last reviewed:Feb 1, 2024
- Content source: