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Mutations in proline‐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… Click to show full abstract
Mutations in proline‐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 with PKD carrying PRRT2 variants, carrying TMEM151A variants, and carrying neither the PRRT2 nor TMEM151A variant.
Keywords:
prrt2 tmem151a;
kinesigenic dyskinesia;
features differ;
paroxysmal kinesigenic;
tmem151a variants
Journal Title: Movement Disorders
Year Published: 2022
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Journal Title: Movement Disorders
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!