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1. Heterozygous EIF2AK2 Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to DBS.

Author

Magrinelli, Francesca, Moualek, Dalila, Tazir, Meriem, Pacha, Lamia Ali, Verghese, Alice, Bhatia, Kailash P., Maroofian, Reza, and Houlden, Henry

Subjects
GENETIC variation, MULTIPLE system atrophy, DYSTONIA, AGENESIS of corpus callosum
Abstract

Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS The missense variant NM 001135651( I EIF2AK2 i ):c.388G>C (p.Gly130Arg) was detected in the heterozygous state in a 28-year-old Algerian male who underwent whole-exome sequencing (WES) for adolescence-onset generalized dystonia with leg involvement.6 He was healthy until age 17, when he presented with dystonic posturing of the first two left fingers. [Extracted from the article]

Published
2022
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