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

Sara MatricardiPaolo BonanniGiulia IapadreMaurizio EliaElisabetta CesaroniAlberto DanieliSusanna NegrinLuca ZagaroliFrancesca Felicia OpertoMarco CarotenutoFrancesco PisaniEmanuela Claudia TurcoAlessandro OrsiniAlice BonuccelliSalvatore SavastaDaniela ConcolinoGiuseppe Di CaraPasquale StrianoAlberto Verrotti

Published in: European journal of neurology (2021)

This study provides new insight into the natural history of epilepsy in PTHS. Better characterization of epileptic phenotype and prompt tailored treatment improve overall management and quality of life.

Keyphrases

copy number
case report
smoking cessation
dna methylation
combination therapy