Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

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

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.

Affiliation

Cordelli DM; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy. ducciomaria.cordelli@aosp.bo.it

Am J Med Genet A ; 161A(2): 273-84, 2013 Feb.

Article in En | MEDLINE | ID: mdl-23322667

Subject(s)

Hirschsprung Disease/physiopathology; Intellectual Disability/physiopathology; Microcephaly/physiopathology; Seizures/physiopathology; Adolescent; Anticonvulsants/therapeutic use; Child; Child, Preschool; DNA Mutational Analysis; Electroencephalography; Facies; Female; Hirschsprung Disease/drug therapy; Hirschsprung Disease/genetics; Homeodomain Proteins/genetics; Humans; Intellectual Disability/drug therapy; Intellectual Disability/genetics; Male; Microcephaly/drug therapy; Microcephaly/genetics; Mutation; Phenotype; Repressor Proteins/genetics; Retrospective Studies; Seizures/drug therapy; Seizures/genetics; Valproic Acid/therapeutic use; Young Adult; Zinc Finger E-box Binding Homeobox 2

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Full text: 1 Database: MEDLINE Main subject: Seizures / Hirschsprung Disease / Intellectual Disability / Microcephaly Type of study: Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2013 Type: Article

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