A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
J Child NeurolFeb 9, 2026 (epub)
Mariah Pace, Doriette Soler
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Case in brief
A 5-month-old infant presented with jerking movements during a car ride, followed by generalized tonic-clonic seizures and recurrent kinesigenic posturing. The posturing occurred tens of times daily, although a consistent trigger was not always apparent. Genetic testing identified the PRRT2 variant c.649dup.(Arg217Profs*8). The movements responded well to low-dose carbamazepine.
What made this case unusual
The paroxysmal movements were not consistently triggered by movement, despite the kinesigenic posturing and PRRT2-associated presentation.
Diagnostic / clinical pearl
In an infant with recurrent paroxysmal posturing and seizures, PRRT2 testing may help identify a genetic association, even when a consistent kinesigenic trigger is absent.