Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
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Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography show... ...
