TY - GEN AU - Al-Sayed,Moeenaldeen D AU - Al-Zaidan,Hamad AU - Albakheet,Albandary AU - Hakami,Hana AU - Kenana,Rosan AU - Al-Yafee,Yusra AU - Al-Dosary,Mazhor AU - Qari,Alya AU - Al-Sheddi,Tarfa AU - Al-Muheiza,Muhammed AU - Al-Qubbaj,Wafa AU - Lakmache,Yamina AU - Al-Hindi,Hindi AU - Ghaziuddin,Muhammad AU - Colak,Dilek AU - Kaya,Namik TI - Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay SN - 1537-6605 PY - 2014///0219 KW - Abnormalities, Multiple KW - genetics KW - Adolescent KW - Child KW - Child, Preschool KW - Codon, Nonsense KW - Craniofacial Abnormalities KW - Exome KW - Facies KW - Female KW - Genes, Recessive KW - Genetic Linkage KW - Genetic Predisposition to Disease KW - Humans KW - Intellectual Disability KW - Ion Channels KW - Male KW - Membrane Proteins KW - Muscle Hypotonia KW - Muscular Atrophy KW - Mutation, Missense KW - Pedigree KW - Polymorphism, Single Nucleotide KW - Sodium Channels KW - Speech Disorders N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.ajhg.2013.08.001 ER -