Developmental and epileptic encephalopathies (DEEs) are a group of severe childhood-onset disorders characterized by drug-resistant epilepsy and a broad spectrum of neurodevelopmental, behavioral, psychiatric, and systemic manifestations. Although seizure control has traditionally been the primary therapeutic goal, gro...
G. Dell'Isola, Michele Sorrentino, Sara Massara 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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