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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 23, 2025. (Total: 235574Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Epilepsy and GABRB3[original query]
[Case-control study and transmission/disequilibrium test of childhood absence epilepsy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2002 Jun 19 (3): 183-6.
Lu Jianjun, Chen Yucai, Zhang Yuehua, Pan Hong, Liu Xiaoyan, Jiang Yuwu, Du Weinan, Shen Yan, Xu Keming, Wu Husheng, Wu Xi
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
Human molecular genetics 2006 Aug 15 (16): 2533-41.
Urak Lydia, Feucht Martha, Fathi Nahid, Hornik Kurt, Fuchs Karoli
Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.
Epilepsy research 2007 Apr 74 (1): 28-32.
Hempelmann Anne, Cobilanschi Joana, Heils Armin, Muhle Hiltrud, Stephani Ulrich, Weber Yvonne, Lerche Holger, Sander Thom
Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.
Epilepsia 2010 Sep 51 (9): 1894-7.
Lachance-Touchette Pamela, Martin Caroline, Poulin Chantal, Gravel Micheline, Carmant Lionel, Cossette Patri
Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.
Epilepsia 2012 Aug 53 (8): 1450-6.
Tanaka Miyabi, Bailey Julia N, Bai Dongsheng, Ishikawa-Brush Yumiko, Delgado-Escueta Antonio V, Olsen Richard
Association analysis of GABRB3 promoter variants with heroin dependence.
PloS one 2014 9 (7): e102227.
Chen Chia-Hsiang, Huang Chia-Chun, Liao Ding-Li
Novel and de novo mutations in pediatric refractory epilepsy.
Molecular brain 2018 9 11 (1): 48.
Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom
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
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Journal of neurology 2021 10 269 (5): 2649-2665.
Yang Ying, Zeng Qi, Cheng Miaomiao, Niu Xueyang, Xiangwei Wenshu, Gong Pan, Li Wenhui, Ma Jiehui, Zhang Xiaoli, Yang Xiaoling, Yang Zhixian, Sun Dan, Zhou Shuizhen, Liao Jianxiang, Jiang Yuwu, Zhang Yueh
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