Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family


Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium channel, there are few reports of genetically confirmed EA-2… (More)
DOI: 10.3988/jcn.2006.2.4.268


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