Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. Am J Hum Genet. 2013 Oct 3;93(4):721-6.