Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations

نویسندگان

  • Anna Guacci
  • Massimiliano Chetta
  • Francesca Rizzo
  • Giovanna Marchese
  • Maria Rosaria De Filippo
  • Giorgio Giurato
  • Giovanni Nassa
  • Maria Ravo
  • Roberta Tarallo
  • Teresa Rocco
  • Francesca Felicia Operto
  • Alessandro Weisz
  • Giangennaro Coppola
چکیده

Anna Guacci , Massimiliano Chetta , Francesca Rizzo , Giovanna Marchese , Maria Rosaria De Filippo , Giorgio Giurato , Giovanni Nassa , Maria Ravo , Roberta Tarallo , Teresa Rocco , Francesca Felicia Operto , Alessandro Weisz **, Giangennaro Coppola * a 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 Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA 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 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

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منابع مشابه

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.

To the Editor : Ohtahara syndrome (OS) is characterized by early-onset of seizures, suppression-burst patterns on electroencephalogram (EEG), and severe psychomotor retardation (1–3). De novo mutations in the STXBP1 gene, including various point mutations and one complete deletion, have been found in about one-third of Japanese cases of cryptogenic OS (4–6). However, the clinical spectrum of ST...

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The effects of genetic polymorphisms of CYP2C9 and CYP2C19 on phenytoin metabolism in Japanese adult patients with epilepsy: studies in stereoselective hydroxylation and population pharmacokinetics.

PURPOSE The aim of this study was to clarify the effects of genetic polymorphisms of cytochrome P450 (CYP) 2C9 and 2C19 on the metabolism of phenytoin (PHT). In addition, a population pharmacokinetic analysis was performed. METHODS The genotype of CYP2C9 (Arg144/Cys, Ile359/Leu) and CYP2C19(*1, *2 or *3) in 134 Japanese adult patients with epilepsy treated with PHT were determined, and their ...

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CYP2C9 polymorphism in patients with epilepsy: genotypic frequency analyzes and phenytoin adverse reactions correlation.

OBJECTIVE CYP2C9 is a major enzyme in human drug metabolism and the polymorphism observed in the corresponding gene may affect therapeutic outcome during treatment. The distribution of variant CYP2C9 alleles and prevalence of phenytoin adverse reactions were hereby investigated in a population of patients diagnosed with epilepsy. METHOD Allele-specific PCR analysis was carried out in order to...

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Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

BACKGROUND Phenytoin, mainly metabolized by cytochrome P450 enzyme system, has a narrow therapeutic index and may have adverse effects due to inter-individual variation in the dose requirement and genetic polymorphisms. This cross-sectional study was done to study the prevalence of cytochrome P450 CYP2C9 polymorphisms in Indian epileptic children and to see the effect of polymorphisms on serum ...

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Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

Mutations within STXBP1 have been associated with a range of neurodevelopmental disorders implicating the pleotropic impact of this gene. Although the frequency of de novo mutations within STXBP1 for selective cohorts with early onset epileptic encephalopathy is more than 1%, there is no evidence for a hotspot within the gene. In this study, we analyzed the genomic context of de novo STXBP1 mut...

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عنوان ژورنال:
  • Seizure

دوره 34  شماره 

صفحات  -

تاریخ انتشار 2016