Misleading EEG in CACNA1A mutation: A case of late-onset episodic ataxia type 2.

Abstract excerpt

BACKGROUND: Episodic ataxia type 2 (EA2) is a rare, autosomal dominant paroxysmal neurological disorder caused by mutations in the CACNA1A gene. Its hallmark features include transient episodes of ataxia and dysarthria, often responsive to acetazolamide. However, misdiagnosis as epilepsy may occur due to overlapping electroencephalographic findings. CASE PRESENTATION: We report a 64-year-old woman with no prior...

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• Ataxia
• Calcium Channels
• Calcium Channels, N-Type
• Electroencephalography
• Mutation