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 in PTHS.

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; Elia, Maurizio; Cesaroni, Elisabetta; Danieli, Alberto; Negrin, Susanna; Zagaroli, Luca; Operto, Francesca Felicia; Carotenuto, Marco; Pisani, Francesco; Turco, Emanuela Claudia; Orsini, Alessandro; Bonuccelli, Alice; Savasta, Salvatore; Concolino, Daniela; Di Cara, Giuseppe; Striano, Pasquale; Verrotti, Alberto. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1468-1331. - In press:(2021). [10.1111/ene.15104]

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

Pisani, Francesco;
2021-01-01

Abstract

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 in PTHS.
2021
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; Elia, Maurizio; Cesaroni, Elisabetta; Danieli, Alberto; Negrin, Susanna; Zagaroli, Luca; Operto, Francesca Felicia; Carotenuto, Marco; Pisani, Francesco; Turco, Emanuela Claudia; Orsini, Alessandro; Bonuccelli, Alice; Savasta, Salvatore; Concolino, Daniela; Di Cara, Giuseppe; Striano, Pasquale; Verrotti, Alberto. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1468-1331. - In press:(2021). [10.1111/ene.15104]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2897698
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 3
  • ???jsp.display-item.citation.isi??? 3
social impact