Associated Papers
Structural architecture of the human NALCN channelosome.
Kschonsak M et al.
Nature, 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
Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Vivero M et al.
Clinical Genetics, 2017
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG et al.
Neurology, 2016
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
Aoyagi K et al.
Human Mutation, 2015
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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