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"EA1-associated KCNA1 mutations generally cause loss of function in KCNA1, most commonly by altering channel functional properties and less commonly by impairing KCNA1 biosynthesis or anterograde trafficking (6, 7)."

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"Episodic ataxia type 1 (EA1) is an autosomal dominant and sporadic neurological disorder characterized by frequent, short-lasting attacks of uncoordinated movements and involuntary, repetitive muscle contraction (myokymia); genetic analyses indicate that EA1 is associated with mutations in the KCNA1 gene on chromosome 12p that encodes the human Kv1.1 α subunit xref xref xref xref xref ."