Background and purpose Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by deletions/variants in the TCF4 gene. Seizures may be present in up to half of the patients, leading to a more severe disease burden. This study aims to analyse the electroclinical phenotype, treatment options, and long-term outcomes of epilepsy...
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2022 (v1)PublicationUploaded on: February 11, 2024
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2023 (v1)Journal article
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 -
2022 (v1)Publication
Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopment and epilepsy.
Uploaded on: February 14, 2024 -
2022 (v1)Publication
BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6-10% of all childhood strokes and transient ischemic attacks (TIAs). MethodsWe conducted a retrospective multicenter study on pediatric-onset...
Uploaded on: February 14, 2024