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Article

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2009

Bertholon P, Chabrier S, Riant F, Tournier-Lasserve E, Peyron R

Abstract excerpt

OBJECTIVE: To describe aspects in clinical and genetic presentation in five patients with episodic ataxia type 2 (EA2). METHODS: CACNA1A gene screening identified a mutation in three probands and in two of their children. RESULTS: The three probands had attacks of imbalance, associated with dizziness/vertigo and/or headache. Two of them had independent migraine attacks. Interictal oculomotor examination revealed...

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PMID: 19864665
DOI: 10.1136/jnnp.2008.159103

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