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A. Verrotti

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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
Open access Oct 2026

Psychiatric comorbidities in pediatric epilepsy: a single-center retrospective study highlighting the burden of depressive symptoms

Epilepsy in the pediatric population is frequently associated with psychiatric comorbidities. Depression is of particular clinical significance given its elevated incidence and substantial impact on quality of life, treatment adherence, and psychosocial functioning. The prevalence of depression in children with epi...

Arianna De Leonardis, Alberto Spalice, A. Verrotti et al. · 0 citations
Review Aug 2026

New and emerging pharmacotherapeutic options for the treatment of pediatric focal epilepsies.

Current and emerging pharmacotherapeutic options for selected representative pediatric focal epilepsies are summarized using a syndrome- and localization-oriented approach, highlighting conventional antiseizure medications, newer agents, and investigational or repurposed treatments.

L. Perilli, G. Dell’Isola, Pietro Ferrara et al. · 0 citations
Open access Jul 2026

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series

A retrospective multicenter case series of seven previously unreported individuals with heterozygous FBXW7 variants identified through clinical genetic testing expands the phenotypic spectrum associated with FBXW7-related neurodevelopmental disorder and highlights variable expressivity and incomplete penetrance.

Salvatore Savasta, F. Comisi, G. Dell’Isola et al. · 0 citations

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