Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS

Mov Disord Clin Pract. 2021 Nov 21;9(2):268-271. doi: 10.1002/mdc3.13371. eCollection 2022 Feb.

Francesca Magrinelli^{1

2}, Dalila Moualek^{3

4}, Meriem Tazir^{3

4}, Lamia Ali Pacha^{3

4}, Alice Verghese¹, Kailash P Bhatia¹, Reza Maroofian⁵, Henry Houlden⁵

¹ Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.
² Department of Neurosciences Biomedicine and Movement Sciences, University of Verona Verona Italy.
³ Service de Neurologie CHU Mustapha Bacha Alger Algeria.
⁴ Laboratoire de Recherche en Neurosciences Université Benyoucef Benkhedda Alger Algeria.
⁵ Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London London United Kingdom.

No abstract available

Keywords: EIF2AK2; deep brain stimulation; dystonia; genetics; movement disorders.

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