Articles with "tmem151a variants" as a keyword



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Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

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Published in 2022 at "Movement Disorders"

DOI: 10.1002/mds.28939

Abstract: Mutations in prolineā€rich transmembrane protein 2 (PRRT2) are the major cause of paroxysmal kinesigenic dyskinesia (PKD). We recently reported transmembrane protein 151A (TMEM151A) mutations caused PKD. Herein, we aimed to conduct phenotypic comparisons of patients… read more here.

Keywords: prrt2 tmem151a; kinesigenic dyskinesia; features differ; paroxysmal kinesigenic ... See more keywords