Associated Papers
Periodic breathing in patients with NALCN mutations.
Bourque DK et al.
Journal of Human Genetics, 2018
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2018
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R et al.
Journal of Human Genetics, 2016
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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