CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine
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Objective: CACNA1A encodes the Cav2.1 (P/Q-type) channel whose spectrum extends from FHM1/EA2/SCA6 to epilepsy and vertigo, but penetrance-especially sex differences-remains unclear. We report a three-generation family with CACNA... ...
