Objective  To compare the HLA-B*1502 allele carrier rate and allele frequency in Uygur, Han and Kazak children with epilepsy, and to evaluate the risk of inducing adverse skin reactions by using aromatic ring anti-seizure medications (ASMs) in HLA-B*1502-positive children.

Methods  460 children who were treated in our hospital from January 2019 to August 2022, were detected HLA-B*1502TA and HLA-B*1502TB genotypes by fluorescent staining in situ hybridization sequencing technology before the first use of ASMs and were implemented medication guidance were retrospec-tively collected, and their genotypes and skin-type adverse drug reactions were analyzed.

Results  The mutation rates of HLA-B*1502 gene in children with Uyghur, Han and Kazakh epilepsy were 47.41%, 41.57% and 54.84%, respectively. The HLA-B*1502 heterozygous mutant gene in Kazakh chil-dren with epilepsy was significantly higher than that in Han children (P<0.05). The body mass indices of HLA-B*1502 wild-type genomes of children with Uyghur, Han and Kazakh epilepsy were significantly higher than those of children in the mutant group (P<0.05). 247 wild-type children with HLA-B*1502 did not develop skin adverse reactions after continuing to take aromatic ASMs, 12 children with HLA-B*1502 homozygous mutant adjusted to ASMs with other mechanisms of action, 56 of the 201 heterozygous mutant patients continued to use aromatic ASMs, and 5 children developed maculopap-ular rash, Stevens Johnson syndrome and toxic epidermal necrolysis within three weeks of medica-tion.

Conclusion  HLA-B*1502 gene testing is necessary for the initial clinical use of aromatic ASMs for the control and treatment of seizures in children.

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