Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 11 (of 11 Records) |
Query Trace: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy[original query] |
---|
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. Epilepsia 2003 Aug 44 (8): 1089-93. Chou I-Ching, Lee Cheng-Chun, Huang Chao-Ching, Wu Jer-Yuarn, Tsai Jeffrey J P, Tsai Chang-Hai, Tsai Fuu-J |
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. Neuroscience letters 2007 Jul 422 (1): 74-6. Gu Wenli, Bertrand Daniel, Steinlein Ortrud |
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy research 2009 Feb 83 (2-3): 152-6. Chen Yan, Wu Liwen, Fang Yue, He Zhiyi, Peng Bingwei, Shen Yan, Xu |
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. Seizure 2009 Oct 18 (8): 601-3. Rozycka Agata, Steinborn Barbara, Trzeciak Wieslaw |
The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy. Epilepsy research 2011 Jun 95 (1-2): 94-9. Liu Hui, Lu Cailing, Li Zhenzhong, Zhou Shiyi, Li Xiaoqiao, Ji Liri, Lu Qiang, Lv Ruijuan, Wu Liwen, Ma |
[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2011 Feb 28 (1): 14-8. Chen Zhi-hong, Zhai Qiong-xiang, Gui Juan, Zhang Yu-xin, Guo Yu-xiong, Ding Jian, Hao Yi |
[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Dec 30 (6): 662-5. Zhai Qiong-xiang, Wang Chun, Chen Qian, Guo Yu-xiong, Chen Zhi-hong, Zhang Yu-xin, Gui Juan, Tang Zhi-hong, Zhuo Mu-qi |
Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. CNS neuroscience & therapeutics 2013 Nov . Qu J, Zhang Y, Yang ZQ, Mao XY, Zhou BT, Yin JY, He H, Li XP, Long HY, Lv N, Xu XJ, Xiao B, Zhang Y, Tang Q, Hu DL, Zhou HH, Liu ZQ |
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. International journal of clinical and experimental medicine 2015 8 (6): 9063-70. Chen Zhihong, Wang Lingan, Wang Chun, Chen Qian, Zhai Qiongxiang, Guo Yuxiong, Zhang Yux |
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurology. Genetics 2016 Dec 2 (6): e118. Møller Rikke S, Weckhuysen Sarah, Chipaux Mathilde, Marsan Elise, Taly Valerie, Bebin E Martina, Hiatt Susan M, Prokop Jeremy W, Bowling Kevin M, Mei Davide, Conti Valerio, de la Grange Pierre, Ferrand-Sorbets Sarah, Dorfmüller Georg, Lambrecq Virginie, Larsen Line H G, Leguern Eric, Guerrini Renzo, Rubboli Guido, Cooper Gregory M, Baulac Stéphan |
Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine. Neurology 2017 12 90 (1): e67-e72. Mullen Saul A, Carney Patrick W, Roten Annie, Ching Michael, Lightfoot Paul A, Churilov Leonid, Nair Umesh, Li Melody, Berkovic Samuel F, Petrou Steven, Scheffer Ingrid |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: