Article
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
American journal of medical genetics. Part A - 1 Feb 2013
Cordelli Duccio Maria, Garavelli Livia, Savasta Salvatore, Guerra Azzurra, Pellicciari Alessandro, Giordano Lucio, Bonetti Silvia, Cecconi Ilaria, Wischmeijer Anita, Seri Marco, Rosato Simonetta, Gelmini Chiara, Della Giustina Elvio, Ferrari Anna Rita, Zanotta Nicoletta, Epifanio Roberta, Grioni Daniele, Malbora Baris, Mammi Isabella, Mari Francesca, Buoni Sabrina, Mostardini Rosa, Grosso Salvatore, Pantaleoni Chiara, Doz Morena, Poch-Olivé Maria Luisa, Rivieri Francesca, Sorge Giovanni, Simonte Graziella, Licata Francesca, Tarani Luigi, Terazzi Emanuela, Mazzanti Laura, Cerruti Mainardi Paola, Boni Antonella, Faravelli Francesca, Grasso Marina, Bianchi Paolo, Zollino Marcella, Franzoni Emilio
Abstract excerpt
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70-75%. In order to delineate the...
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