P

B

PODESTÀ , Barbara

Last name: PODESTÀ

First name: Barbara

2023 (v1)

Journal article

Metadata-only

Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

Matricardi, Sara Cestèle, Sandrine Trivisano, Marina

Objective: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype–genotype relationship and functional consequences of SCN1A variants in a cohort of patients.Methods: Sixteen...

Uploaded on: June 15, 2023