EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.

Demy J S KuipersWim MandemakersChin-Song LuSimone OlgiatiGuido J BreedveldChristina FevgaVera TadicMiryam CarecchioBradley OstermanLena Sagi-DainYah-Huei Wu-ChouChiung C ChenHsiu-Chen ChangShey-Lin WuTu-Hsueh YehYi-Hsin WengAntonio E EliaCeleste PanteghiniNicolas MarottaMartje G PaulyAndrea A KühnJens VolkmannBaiba LaceInge A MeijerKrishna KandaswamyMarialuisa QuadriBarbara GaravagliaKatja LohmannPeter BauerNiccolò E MencacciSteven J LubbeChristine KleinAida M Bertoli-AvellaVincenzo Bonifati

Published in: Annals of neurology (2020)

We identified EIF2AK2 variants implicated in early onset generalized dystonia, which can be dominantly or recessively inherited, or occur de novo. Our findings provide direct evidence for a key role of a dysfunctional eIF2α pathway in the pathogenesis of dystonia. ANN NEUROL 2021;89:485-497.

Keyphrases

early onset
late onset
copy number
intellectual disability
deep brain stimulation
gene expression
autism spectrum disorder
neural network