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

Parkinsonism & related disorders - 1 Mar 2023

Mounir Alaoui Othman, Charbonneau Pierre-François, Prin Pauline, Mongin Marie, Choquer Mathilde, Damier Philippe, Riant Florence, Degos Bertrand

Abstract excerpt

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.

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PMID: 36724570
DOI: 10.1016/j.parkreldis.2023.105295

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