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<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current

2025-06-22

Abstract excerpt

The Na + leak channel NALCN regulates the resting membrane potential and consequently cell excitability of several cell types, including neurons. Studies of animal models demonstrated that NALCN is involved in fundamental physiological functions such as respiratory rhythm, circadian rhythm, sleep, locomotor behavior and pain perception. Pathogenic variants of NALCN have been associated with ultra-rare developmenta...

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Identifiers and source

Literature Corpus work
89097469-c692-5ae6-96ab-a92a97292727
DOI
10.1101/2025.06.20.25329825
Open publication

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