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Author

A. Spalice

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Open access Oct 2026

The role of early genetic diagnosis in drug-resistant epilepsies: analysis of SCN1A, SCN2A and SCN8A gene mutations through salivary genetic testing

Epileptic and/or developmental encephalopathies (DEEs) represent a particularly severe subgroup of early-onset epilepsies, with an identifiable genetic aetiology in 30–50% of cases. Mutations in the SCN1A , SCN2A , and SCN8A genes, encoding the α-subunits of the voltage-gated sodium channels Nav1.1, Nav1....

Arianna De Leonardis, A. Spalice, M. Capponi et al. · 0 citations
Review Open access Aug 2026

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms

PPP1R21-related neurodevelopmental disorder (PPP1R21-NDD) is an ultra-rare autosomal-recessive encephalopathy caused by dysfunction of the Five-subunit Endosomal Rab5 and RNA/ribosome intermediarY (FERRY) complex. To delineate the clinical, neuroimaging, and molecular spectrum of PPP1R21-NDD and outline diagnostic and...

F. Comisi, G. Di Pasquale, A. Comisi et al. · 0 citations

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