首页> European journal of neurology> Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.

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

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第一作者： Sara,Matricardi

第一单位： Child Neurology and Psychiatry Unit, "G. Salesi" Children's Hospital, Ospedali Riuniti Ancona, Ancona, Italy.

作者： Sara,Matricardi ^[1] ; Paolo,Bonanni ^[2] ; Giulia,Iapadre ^[3] ; Maurizio,Elia ^[4] ; Elisabetta,Cesaroni ^[1] ; Alberto,Danieli ^[2] ; Susanna,Negrin ^[2] ; Luca,Zagaroli ^[3] ; Francesca Felicia,Operto ^[5] ; Marco,Carotenuto ^[6] ; Francesco,Pisani ^[7] ; Emanuela Claudia,Turco ^[7] ; Alessandro,Orsini ^[8] ; Alice,Bonuccelli ^[8] ; Salvatore,Savasta ^[9] ; Daniela,Concolino ^[10] ; Giuseppe,Di Cara ^[11] ; Pasquale,Striano ^[12] ; Alberto,Verrotti ^[11]

作者单位： Child Neurology and Psychiatry Unit, "G. Salesi" Children's Hospital, Ospedali Riuniti Ancona, Ancona, Italy. ^[1] Epilepsy Unit, IRCCS Eugenio Medea Scientific Institute, Conegliano, Italy. ^[2] Department of Paediatrics, University of L'Aquila, L'Aquila, Italy. ^[3] Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy. ^[4] Child Neuropsychiatry Unit, Department of Medicine, Surgery, and Dentistry, University of Salerno, Salerno, Italy. ^[5] Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine, Luigi Vanvitelli University, Caserta, Italy. ^[6] Child Neuropsychiatric Unit, Maternal and Child Health Department, Parma University Hospital, Parma, Italy. ^[7] Paediatric Neurology, Paediatric Department, Santa Chiara's University Hospital, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy. ^[8] Department of Paediatrics, Maggiore Hospital ASST Crema, Crema, Italy. ^[9] Paediatrics Unit, Department of Health Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy. ^[10] Department of Paediatrics, University of Perugia, Perugia, Italy. ^[11] Paediatric Neurology and Muscular Diseases Unit, Giannina Gaslini Institute, IRCCS, Genoa, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy. ^[12]

关键词 Pitt-Hopkins syndrome TCF4 gene antiseizure medications epilepsy seizures