<scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

Abstract

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.