Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and GABRA1[original query] |
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Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. Neuroscience letters 2005 Aug 383 (3): 220-4. Ito Minako, Ohmori Iori, Nakahori Tomoyuki, Ouchida Mamoru, Ohtsuka Yo |
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. Pharmacogenetics and genomics 2013 Nov 23 (11): 605-10. Balan Shabeesh, Sathyan Sanish, Radha Saradalekshmi K, Joseph Vijai, Radhakrishnan Kurupath, Banerjee Moin |
Gene-wide tagging study of the effects of common genetic polymorphisms in the a subunits of the GABA(A) receptor on epilepsy treatment response. Pharmacogenomics 2013 Nov 14 (15): 1849-56. Hung Chin-Chuan, Chen Pei-Lung, Huang Wan-Min, Tai John Jen, Hsieh Tsung-Jen, Ding Shih-Torng, Hsieh Yow-Wen, Liou Horng-Hu |
De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia 2016 Feb . Kodera Hirofumi, Ohba Chihiro, Kato Mitsuhiro, Maeda Toshiyuki, Araki Kaoru, Tajima Daisuke, Matsuo Muneaki, Hino-Fukuyo Naomi, Kohashi Kosuke, Ishiyama Akihiko, Takeshita Saoko, Motoi Hirotaka, Kitamura Taro, Kikuchi Atsuo, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Sasaki Masayuki, Kure Shigeo, Haginoya Kazuhiro, Saitsu Hirotomo, Matsumoto Naomic |
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 |
Association of GABAA Receptor Gene with Epilepsy Syndromes. Journal of molecular neuroscience : MN 2018 May . Bhat Musadiq Ahmad, Guru Sameer Ahmad, Mir Rashid, Waza Ajaz Ahmad, Zuberi Mariyam, Sumi Mamta Pervin, Bodeliwala Shaam, Puri Vinod, Saxena Alpa |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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