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CACNA1A activates EA-2. 2 / 2

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"EA-1 is due to different heterozygous missense point mutations in a voltage gated (delayed rectifier) potassium channel gene (KCNA1 and Kv1.1) on chromosome 12p13, whereas EA-2 is caused by mutations of the cerebral P/Q-type calcium channel alpha 1 subunit gene CACNL1A4 localized on chromosome 19p, which is highly expressed in the cerebellum."

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"EA-2 is caused by mutations of calcium channel gene CACNA1A on chromosome 19p13 that encodes the Ca voltage 2.1 subunit of the P/Q-type calcium channel."

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CACNA1A activates EA-2. 2 / 2

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