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Author

M. Priolo

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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
Open access Jul 2026

NFIX missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wasting

In vitro functional studies support variant-specific disruption of DNA binding, providing a mechanistic basis of genotype-phenotype correlations and informing prognosis, clinical surveillance, and therapy development.

C. Delagrammatikas, L. Gourlay, M. Priolo et al. · 0 citations
Jun 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.

P. Failla, V. Muto, Antonella Lauri et al. · 0 citations

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