Article
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Human mutation - 1 Jun 2015
Meng Heng, Xu Hai-Qing, Yu Lu, Lin Guo-Wang, He Na, Su Tao, Shi Yi-Wu, Li Bin, Wang Jie, Liu Xiao-Rong, Tang Bin, Long Yue-Sheng, Yi Yong-Hong, Liao Wei-Ping
Abstract excerpt
Mutations in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and modes of inheritance and in asymptomatic carriers. This raises challenges in evaluating the pathogenicity of SCN1A mutations. We systematically reviewed all SCN1A mutations and established a database containing information on functional alterations. In total, 1,257 mutations have been identified, of which...
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