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TURCO , Emanuela Claudia

Last name: TURCO

First name: Emanuela Claudia

2022 (v1)

Publication

Metadata-only

Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene

Matricardi, Sara Bonanni, Paolo Iapadre, Giulia

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...

Uploaded on: February 11, 2024