ArticleScientific reports2019
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 38 citations in OpenAlex.
- NALCN/Cch1 channelosome subunits originated in early eukaryotes.The Journal of general physiology · 2025Article
- A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.Genes · 2025Article
- The background sodium leak channel NALCN is a major controlling factor in pituitary cell excitability.The Journal of physiology · 2025Article
- Unplugging lateral fenestrations of NALCN reveals a hidden drug binding site within the pore region.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review.Frontiers in pediatrics · 2024Article
- Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCNFrontiers in genetics · 2024Article
- Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Clinical genetics · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Article
- Case Report: AFrontiers in pediatrics · 2022Article
- A sodium background conductance controls the spiking pattern of mouse adrenal chromaffin cells in situ.The Journal of physiology · 2021Article
- Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex.Nature communications · 2020Article
- Structure of the human sodium leak channel NALCN in complex with FAM155A.Nature communications · 2020Article
- Structure of the human sodium leak channel NALCN.Nature · 2020Article
- N-benzhydryl quinuclidine compounds are a potent and Src kinase-independent inhibitor of NALCN channels.British journal of pharmacology · 2020Article
- The NALCN channel complex is voltage sensitive and directly modulated by extracellular calcium.Science advances · 2020Article
- A Homozygous Truncating Mutation inThe application of clinical genetics · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The excitability of neurons is tightly dependent on their ion channel repertoire. Among these channels, the leak sodium channel NALCN plays a crucial role in the maintenance of the resting membrane potential. Importantly, NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. Unfortunately, the biophysical properties of NALCN are still largely unknown to date, as well as the functional consequences of both IHPRF and CLIFAHDD mutations on NALCN current. Here we have set-up the heterologous expression of NALCN in the neuronal cell line NG108-15 to investigate the electrophysiological properties of NALCN carrying representative IHPRF and CLIFAHDD mutations. Several original properties of the wild-type (wt) NALCN current were retrieved: mainly carried by external Na
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