Associated Papers
Severe central sleep apnea in a child with biallelic variants in NALCN.
Maselli K et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2022
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2018
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
Gal M et al.
European Journal of Medical Genetics, 2016
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX et al.
American Journal of Human Genetics, 2015
The sodium leak channel, NALCN, in health and disease.
Cochet-Bissuel M et al.
Frontiers in Cellular Neuroscience, 2014
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Al-Sayed MD et al.
American Journal of Human Genetics, 2013
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