Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review.

Abstract excerpt

Paroxysmal dyskinesias, marked by sudden involuntary movements, poses diagnostic challenges because of its heterogeneous nature and overlap with other movement disorders. Genetic factors, especially variants in the ATP1A3 gene, have been linked to various neurologic conditions, including paroxysmal dystonia. We report a 5-year-old patient with a rare ATP1A3 gene variant (c.2309T>G, p.(Leu770Arg)), previously...

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