Iranian Journal of Child Neurology 2013
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report.
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OBJECTIVE
Episodic ataxia type 2 (EA2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus. We report a case of EA2, which downward gaze palsy exists as a common sign in all her attacks. Responsiveness of EA2 to acetazolamide was observed in this patient.