Article

Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN

2025-09-17

Abstract excerpt

The sodium leak channel nonselective (NALCN) is the pore-forming channel component of the NALCN channelosome. This protein complex generates a depolarizing sodium leak in various tissues and contributes to respiratory and circadian rhythms, locomotion, and sleep. De novo and inherited variants of NALCN can lead to severe developmental syndromes called ‘contractures of the limbs and face, hypotonia, and developme...

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Literature Corpus work: 4d312f5c-cb6d-5a96-991d-5ff6cdda8283
DOI: 10.1101/2025.09.15.676065

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