Short- and long-interval intracortical inhibition in EPM1 is related to genotype.

Katri Silvennoinen,Laura Säisänen,Jelena Hyppönen,Saara M Rissanen,Pasi A Karjalainen,Sasha D'Ambrosio,Diego Jimenez-Jimenez,Sara Zagaglia,John C Rothwell,Simona Balestrini,Sanjay M Sisodiya,Petro Julkunen,Esa Mervaala,Reetta Kälviäinen

Epilepsia（2023）

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摘要

Our results strengthen the finding of deranged γ-aminobutyric acid (GABA)ergic inhibition in EPM1. LICI and SICI may have use as markers of GABAergic impairment in future trials of disease-modifying treatment in this condition. Whether a higher number of expansion repeats leads to greater GABAergic impairment warrants further study.

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关键词

LICI,SICI,Unverricht-Lundborg disease,progressive myoclonic epilepsy,transcranial magnetic stimulation

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