Abstract
Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterised by brief attacks of ataxia and is due to mutations in the voltage-gated potassium channel Kv1.1, encoded by KCNA1. Attacks generally improve with age and unlike Episodic ataxia type 2 (EA2), are not associated with progressive ataxia. There are no reports of EA1 occurring in twins. Methods: KCNA1 gene was directly sequenced. Mutations were inserted into a cDNA construct of KCNA1 contained within the mammalian expression vector, pMT2LF, using site-directed mutagenesis.
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