Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Contents
The sodium leak channel, a Na+‐permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+‐leak conductance and regulating neuronal excitability. A 3‐year‐old girl, heterozygous for a de novo missense mutation in NALCN (c.956C>T; p.Ala319Val) predicted to be deleterious, presented from birth with: sti...
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Full title
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5099533
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5099533
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ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.362
