2DuW, BautistaF, YangH, Diez-SampedroA, YouS, WangL, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet. 2005; 37(7): 733–8. DOI: 10.1038/ng1585
4MeredithAL. Genetic methods for studying ion channel function in physiology and disease; 2015. Boca Raton, FL: Handbook of Ion Channels, Taylor and Francis, CRC Press. DOI: 10.1201/b18027-16
5TabarkiB, AlMajhadN, AlhashemA, ShaheenR, AlkurayaFS. Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. Hum Genet. 2016; 135(11): 1295–1298. DOI: 10.1007/s00439-016-1726-y
6IoannidisNM, RothsteinJH, PejaverV, MiddhaS, McDonnellSK, BahetiS, et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. American journal of human genetics. 2016; 99(4): 877–85. DOI: 10.1016/j.ajhg.2016.08.016
7RentzschP, WittenD, CooperGM, ShendureJ, KircherM. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic acids research. 2019; 47(D1): D886–D94. DOI: 10.1093/nar/gky1016
11LiuHW, HouPP, GuoXY, ZhaoZW, HuB, LiX, et al. Structural basis for calcium and magnesium regulation of a large conductance calcium-activated potassium channel with beta1 subunits. J Biol Chem. 2014; 289(24): 16914–23. DOI: 10.1074/jbc.M114.557991