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Year: 2022 ×Author: Brian N. Bundy ×Clear All Filters
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The Cerebellum · 2022 · Vol. 22 · Issue 4 · Springer
Episodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations in KCNA1 . Patients have childhood onset of intermittent attacks of ataxia, dizziness or imbalance. In order to quantify the natural history of EA1, its effect on quality of life and in preparation for future clinical trials, we set up an international multi-centre study of EA1. We recruited thirty-three participants with EA1: twenty-thr...