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Episodic Ataxia type 1 (EA1)
EA1 is an autosomal dominantly inherited disorder involving both the central and the peripheral nervous system. The disorder is characterised by attacks of ataxia and persistent myokymia, a form of involuntary muscular movement. Episodes of ataxia, with gait imbalance and slurring of speech, occur spontaneously or can be precipitated by sudden movement, excitement, or exercise. The attacks generally last from seconds to several minutes at a time and may recur many times a day. EA1 is associated with mutations in the potassium channel gene KCNA1.
