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


Journal

Epilepsia open
ISSN: 2470-9239
Titre abrégé: Epilepsia Open
Pays: United States
ID NLM: 101692036

Informations de publication

Date de publication:
09 2023
Historique:
received: 14 09 2022
accepted: 22 02 2023
medline: 5 9 2023
pubmed: 26 2 2023
entrez: 25 2 2023
Statut: ppublish

Résumé

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

Identifiants

pubmed: 36840436
doi: 10.1002/epi4.12717
pmc: PMC10472391
doi:

Substances chimiques

Anticonvulsants 0
Cytochrome P-450 CYP1A2 EC 1.14.14.1
Cytochrome P-450 CYP2C19 EC 1.14.14.1
Cytochrome P-450 CYP2C9 EC 1.14.13.-
Phenytoin 6158TKW0C5
Clobazam 2MRO291B4U
Phenobarbital YQE403BP4D

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1142-1150

Informations de copyright

© 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.

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Auteurs

Antonella 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.

Roberta Roberti (R)

Science of Health Department, University Magna Grecia of Catanzaro, Catanzaro, Italy.

Gianluca 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.

Maria Stella Vari (MS)

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Genoa, Italy.

Elisabetta 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.

Valentina De Giorgis (V)

Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.

Caterina Cerminara (C)

Pediatric Neurology Unit, Department of Neurosciences, Tor Vergata University of Rome, Rome, Italy.

Nicola Specchio (N)

Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Nicola Pietrafusa (N)

Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Mario Tombini (M)

Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, University Campus Bio-Medico, Rome, Italy.

Giovanni Assenza (G)

Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, University Campus Bio-Medico, Rome, Italy.

Silvia Cappanera (S)

Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, United Hospitals of Ancona, Ancona, Italy.

Carla Marini (C)

Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, United Hospitals of Ancona, Ancona, Italy.

Paolo Rasmini (P)

Child Neuropsychiatry Vercelli, Vercelli, Italy.

Pierangelo Veggiotti (P)

Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.

Federico 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.

Emilio Russo (E)

Science of Health Department, University Magna Grecia of Catanzaro, Catanzaro, Italy.

Pasquale 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.

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