Neurology

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia

Paroxysmal dyskinesias are a group of genetically and clinically heterogeneous movement disorders that manifest as episodic dyskinesias lasting for a brief duration [1]. Among those, paroxysmal exertion-induced dyskinesia (PED) is induced by prolonged exercise [1]. Interictal examination shows normal in some patients; however other patients show various degrees of neurological manifestations, including intellectual disability, disturbance of smooth eye movement, nystagmus, cerebellar ataxia, spasticity, and epilepsy.

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