Associated Papers
A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.
Cabrita Pinto RL et al.
Genes, 2025
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC et al.
Plos One, 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 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
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
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG et al.
Neurology, 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
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