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Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients.

PMID 37760947 | PMCID PMC10526247 | DOI 10.3390/biomedicines11092505 · Biomedicines · 2023 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantrs1128503“The polymorphism variants of ABCB1 rs1128503 at exon 12, rs2032582 at exon 21, and rs1045642 at exon 26 were genotyped using the Sanger sequencing technique.”0.90hgvs_regex_v1
geneABCB1“Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients.”0.98hgnc_dict_v1
phenotypeepilepsy“Epilepsy is one of the most common chronic neurodisorders in the pediatric age group.”0.98phenotype_alias_lexicon_v2
populationSaudi Arabia, Jeddah“Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients. This multicentric, cross-sectional study was conducted among Saudi children with epilepsy in Jeddah, Saudi Arabia. The study included 85 children with epilepsy: 43 patients demonstrated a good response to ASMs, while 42 patients exhibited a poor response. In conclusion, this study represents the first pharmacogenetic investigation of the ABCB1 gene in Saudi epileptic pediatric patients and demonstrates a significant association between rs1045642 and rs2032582 variants and patient responsiveness.”0.95saudi_context_rules_v1