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Case Reports
. 2023 Mar:108:105295.
doi: 10.1016/j.parkreldis.2023.105295. Epub 2023 Jan 27.

TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases

Othman Mounir Alaoui  1 , Pierre-François Charbonneau  2 , Pauline Prin  3 , Marie Mongin  1 , Mathilde Choquer  1 , Philippe Damier  4 , Florence Riant  5 , Bertrand Degos  6
Affiliations
Case Reports

TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases

Othman Mounir Alaoui et al. Parkinsonism Relat Disord. 2023 Mar.

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) are movement disorders triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. We report three patients presenting PKD with different TMEM151A mutations, two of which have not been described yet.

Keywords: Dystonia; PRRT2; Paroxysmal kinesigenic dyskinesia; TMEM151A.

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