Article
Genotype-dependent response to combined levodopa/benserazide and trihexyphenidyl in pediatric genetic dystonia.
Brain & development - 1 Jun 2026
Zhou Xiaolin, Li Yu, Luo Xiangyang, He Zhanwen, Liu Mujin, Li Pinggan
Abstract excerpt
BACKGROUND: Genetic etiologies underlie a substantial proportion of pediatric dystonia, but whether treatment response to combined dopaminergic and anticholinergic therapy varies by genotype remains unknown. METHODS: This retrospective cohort study analyzed 36 children with genetically confirmed dystonia, classified into three subgroups: PANK2 (n = 7), channelopathies (SCN1A/SCN2A/SCN3A/SCN1B, KCNQ2; n = 6), and...
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