CACNA1A


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CACNA1A

A gene on chromosome 19p13 that encodes the alpha-1A subunit of a voltage-dependent P/Q-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis.

Molecular pathology
CACNA1A mutations are associated with familial hemiplegic migraine and episodic ataxia 2.
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lari (10), ailesinde ailevi hemiplejik migren oykusu olan benin paroksismal tortikollisli iki hastada CACNA1A mutasyonu saptamislar ve bu hastaligin migren "aura" si esdegeri olan bir kalsiyum kanal boslugu olabilecegini iddia etmislerdir.
Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.
The first gene identified was CACNA1A on chromosome 19p13 that encodes the [[alpha].