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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

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F. Habetswallner

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Review Open access Sep 2026

SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation

SCN4A encodes the skeletal-muscle voltage-gated sodium channel NaV1.4. Pathogenic variation in this gene produces fundamentally different disease mechanisms, including dominant alpha-pore gain of function, dominant S4 gating-pore currents, and reduced channel availability, with severe biallelic loss of function causing...

P. D'Ambrosio, Lorenzo Cipriano, A. Pugliese et al. · 0 citations

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