Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations. (January 2016)

• Record Type: Journal Article
• Authors: Guacci, Anna; Chetta, Massimiliano; Rizzo, Francesca; Marchese, Giovanna; Filippo, Maria Rosaria De; Giurato, Giorgio; Nassa, Giovanni; Ravo, Maria; Tarallo, Roberta; Rocco, Teresa; Operto, Francesca Felicia; Weisz, Alessandro; Coppola, Giangennaro
• Is Part Of: Seizure. Volume 34(2016)
• Page Start: 26
• Page End: 28
• Publication Date: 2016-01
• Subjects: Epileptic encephalopathy -- Exome -- STXBP1 -- Ohtahara syndrome -- CYP2C9 -- Phenytoin; Epilepsy -- Periodicals; Epilepsy -- Periodicals; Seizures -- Periodicals; Épilepsie -- Périodiques; Electronic journals; Electronic journals; 616.853
• DOI: 10.1016/j.seizure.2015.11.004
• Languages: English
• ISSNs: 1059-1311

Abstract

Highlights: A new mutation in STXBP1 gene in a patient with a clinical history of Ohtahara syndrome and a severe adverse reaction to phenytoin, co-occurring with compound heterozygous mutations in CYP2C9 gene. To the best of our knowledge, there are no previous report on the co-occurrence of mutations in the STXBP1 gene and variants of the CYP2C9 gene. In patients with genetic epileptic encephalopthies refractory to therapy, whole exome sequencing may help disclose co-mutations in genes coding for drug metabolizing enzymes.