title: Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations.
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Guacci
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Chetta
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Rizzo
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy; Genomix4Life Srl, Department of Medicine and Surgery, University of Salerno, 84081 Baronissi, SA, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Marchese
authors.affiliation: Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: De Filippo
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Giurato
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Nassa
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Ravo
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Tarallo
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Rocco
authors.affiliation: Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery and "SS. Giovanni di Dio e Ruggi d'Aragona-Schola Medica Salernitana" Hospital of the University of Salerno, 84131 Salerno, Italy.
authors.forename: Francesca Felicia
authors.initials: FF
authors.lastname: Operto
authors.affiliation: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, via S. Allende 1, 84081 Baronissi, SA, Italy; Molecular Pathology and Medical Genomics, "SS. Giovanni di Dio e Ruggi d'Aragona-Schola Medica Salernitana" Hospital of the University of Salerno, 84131 Salerno, Italy. Electronic address: aweisz@unisa.it.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Weisz
authors.affiliation: Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery and "SS. Giovanni di Dio e Ruggi d'Aragona-Schola Medica Salernitana" Hospital of the University of Salerno, 84131 Salerno, Italy. Electronic address: gcoppola@unisa.it.
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects*; D002648:Child; D002675:Child, Preschool; D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics*; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation; D010672:Phenytoin / Q000009:adverse effects*
chemical_list: D000927:Anticonvulsants; D051938:Munc18 Proteins; C497937:STXBP1 protein, human; D010672:Phenytoin; C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9
keywords: CYP2C9; Epileptic encephalopathy; Exome; Ohtahara syndrome; Phenytoin; STXBP1