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.· Italian Journal of Pediatric...· 0 citations
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.· Frontiers in Neurology· 0 citations
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.· Expert Opinion on Pharmacoth...· 0 citations
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.· Journal of Neurodevelopmenta...· 0 citations
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