De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, et al. J Hum Genet. 2016 May; 61(5):451-5. Epub 2016 Jan 14.