Associated Papers
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D et al.
Frontiers in Genetics, 2024
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
Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.
Liao Z et al.
Frontiers in Pediatrics, 2022
Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex.
Kang Y et al.
Nature Communications, 2020
Structure of the human sodium leak channel NALCN in complex with FAM155A.
Xie J et al.
Nature Communications, 2020
33203861 (PubMed )
Supplement: 41467_2020_19667_MOESM1_ESM.pdf
A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.
Karimi AH et al.
The Application of Clinical Genetics, 2020
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.
Bouasse M et al.
Scientific Reports, 2019
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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