دورية أكاديمية
A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
العنوان: | A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy. |
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المؤلفون: | Riva A; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., Roberti R; Science of Health Department, University Magna Grecia of Catanzaro, Catanzaro, Italy., D'Onofrio G; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., Vari MS; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., Amadori E; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., De Giorgis V; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Cerminara C; Pediatric Neurology Unit, Department of Neurosciences, Tor Vergata University of Rome, Rome, Italy., Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pietrafusa N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tombini M; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, University Campus Bio-Medico, Rome, Italy., Assenza G; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, University Campus Bio-Medico, Rome, Italy., Cappanera S; Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, United Hospitals of Ancona, Ancona, Italy., Marini C; Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, United Hospitals of Ancona, Ancona, Italy., Rasmini P; Child Neuropsychiatry Vercelli, Vercelli, Italy., Veggiotti P; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Zara F; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., Russo E; Science of Health Department, University Magna Grecia of Catanzaro, Catanzaro, Italy., Striano P; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy. |
المصدر: | Epilepsia open [Epilepsia Open] 2023 Sep; Vol. 8 (3), pp. 1142-1150. Date of Electronic Publication: 2023 May 15. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Hoboken, New Jersey : John Wiley & Sons, Inc., [2016]- |
مواضيع طبية MeSH: | Anticonvulsants*/therapeutic use , Epilepsy*/drug therapy , Epilepsy*/genetics, Humans ; Pharmacogenetics ; Cytochrome P-450 CYP1A2 ; Cytochrome P-450 CYP2C19/genetics ; Cytochrome P-450 CYP2C19/metabolism ; Cytochrome P-450 CYP2C19/therapeutic use ; Pilot Projects ; Cytochrome P-450 CYP2C9/genetics ; Cytochrome P-450 CYP2C9/metabolism ; Saliva/metabolism ; Phenytoin/adverse effects ; Clobazam/therapeutic use ; Phenobarbital/therapeutic use |
مستخلص: | Response to antiseizure medications (ASMs) can be influenced by several gene polymorphisms, causing either lower efficacy or higher occurrence of adverse drug reactions (ADRs). We investigated the clinical utility of salivary pharmacogenomic testing on epilepsy patients. A commercialized pharmacogenomic salivary test was performed in a cohort of epileptic patients. Genetic variants on five genes (i.e., CYP1A2, CYP2C9, CYP2C19, EPHX1, and ABCB1) involved in common ASMs metabolism were selected. Twenty-one individuals (median age [Q (© 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.) |
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فهرسة مساهمة: | Keywords: antiseizure medications; epilepsy; pharmacogenomics; precision medicine |
المشرفين على المادة: | 0 (Anticonvulsants) EC 1.14.14.1 (Cytochrome P-450 CYP1A2) EC 1.14.14.1 (Cytochrome P-450 CYP2C19) EC 1.14.13.- (Cytochrome P-450 CYP2C9) 6158TKW0C5 (Phenytoin) 2MRO291B4U (Clobazam) YQE403BP4D (Phenobarbital) |
تواريخ الأحداث: | Date Created: 20230225 Date Completed: 20230905 Latest Revision: 20230905 |
رمز التحديث: | 20230906 |
مُعرف محوري في PubMed: | PMC10472391 |
DOI: | 10.1002/epi4.12717 |
PMID: | 36840436 |
قاعدة البيانات: | MEDLINE |
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