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Mutated KCNA1 activates Episodic ataxia type 1. 1 / 1
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"Episodic ataxia type 1, an autosomal dominant neurological disorder, is caused by a mutation of the KCNA1 gene encoding the voltage gated K + channel K V 1.1, which substitutes valine for leucine at position 408 [XREF_BIBR]."