Associated Papers
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.
Sartorelli J et al.
Neuropediatrics, 2025
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.
Lee JH
Experimental Neurobiology, 2022
Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay.
Kumaki T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
35911839 (PubMed )
Supplement: Table_1.XLSX › Sheet1
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
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 missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R et al.
Journal of Human Genetics, 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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