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Article

Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2023

Vakrinou Angeliki, Bellampalli Ravishankara, Gulcebi Medine I, Martins Custodio Helena, Research Consortium Genomics England, Balestrini Simona, Sisodiya Sanjay M

Abstract excerpt

BACKGROUND: Whole genome sequencing is increasingly used in healthcare, particularly for diagnostics. However, its clinically multifaceted potential for individually customised diagnostic and therapeutic care remains largely unexploited. We used existing whole genome sequencing data to screen for pharmacogenomic risk factors related to antiseizure medication-induced cutaneous adverse drug reactions (cADRs), such...

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Anticonvulsants
Cohort Studies
Epilepsy
HLA-A Antigens
HLA-B Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

HLA-B15 Antigen

Whole Genome Sequencing

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PMID: 37364985
DOI: 10.1136/jnnp-2023-331419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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