دورية أكاديمية
أعرض في EDS

A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.

التفاصيل البيبلوغرافية
العنوان: A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
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 1 -Q 3 ]: 15 [6.5-28] years) were enrolled. Six patients harboring the homozygous *1F allele in CYP1A2 could have reduced chance of response to stiripentol due to fast metabolism. CYP2C9 had reduced activity in 10 patients (alleles *2 and *3), potentially affecting phenytoin (PHT), phenobarbital (PB), primidone, lacosamide (LCM), and valproic acid metabolism. Seven patients, carrying the *2 allele of CYP2C19, had an increased risk of ADRs with clobazam (CLB), PB, PHT, LCM, brivaracetam; while one individual with the *17 allele in heterozygosity reported a CLB fast metabolism. Six patients showed a CC polymorphism of EPHX1 associated with the impaired efficacy of carbamazepine. ABCB1 polymorphisms related to drug-resistance (3435 CC) or drug-sensitive phenotype (CT or TT) were found in 6 out of 7 patients. Pharmacogenomic testing on saliva proved easy and safe in clinical practice to convey information for the management of epileptic patients, especially those resistant to treatment or sensitive to severe ADRs.
(© 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
الوصف
تدمد:2470-9239
DOI:10.1002/epi4.12717