HuGE Literature Finder
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| CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications. Frontiers in molecular neuroscience 2022 5 15 860662. Li Xue-Lian, Li Zong-Jun, Liang Xiao-Yu, Liu De-Tian, Jiang Mi, Gao Liang-Di, Li Huan, Tang Xue-Qing, Shi Yi-Wu, Li Bing-Mei, He Na, Li Bin, Bian Wen-Jun, Yi Yong-Hong, Cheng Chuan-Fang, Wang J |
| Clinical phenotypes of infantile onset CACNA1A-related disorder. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 12 30 144-154. Gur-Hartman Tamar, Berkowitz Oren, Yosovich Keren, Roubertie Agathe, Zanni Ginevra, Macaya Alfons, Heimer Gali, Dueñas Belén Pérez, Sival Deborah A, Pode-Shakked Ben, López-Laso Eduardo, Humbertclaude Véronique, Riant Florence, Bosco Luca, Cayron Lital Bachar, Nissenkorn Andreea, Nicita Francesco, Bertini Enrico, Hassin Sharon, Ben Zeev Bruria, Zerem Ayelet, Libzon Stephanie, Lev Dorit, Linder Ilan, Lerman-Sagie Tally, Blumkin Lub |
| Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats. Neurochemistry international 2020 10 141 104859. Ohmori Iori, Kobayashi Kiyoka, Ouchida Mamo |
| 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 |
| Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PloS one 2018 13 (6): e0199321. Lee Cha Gon, Lee Jeehun, Lee Munhya |
| 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 |
| Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications. Cephalalgia : an international journal of headache 2017 1 38 (2): 361-373. Prontera P, Sarchielli P, Caproni S, Bedetti C, Cupini L M, Calabresi P, Costa |
| CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiology of disease 2013 Feb 50 209-17. Ohmori Iori, Ouchida Mamoru, Kobayashi Katsuhiro, Jitsumori Yoshimi, Mori Akiko, Michiue Hiroyuki, Nishiki Teiichi, Ohtsuka Yoko, Matsui Hide |
| Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PloS one 2011 6 (3): e17811. Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan |
| Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy. Epilepsy research 2002 Apr 49 (2): 173-7. Sander Thomas, Toliat Mohammad R, Heils Armin, Becker Christian, Nürnberg Pet |
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