May 13, 2016
Calcium voltage-gated channel subunit alpha1 A
The CACNA1A gene codes for the alpha-1 subunit of the CaV2.1 calcium channel. This subunit helps to form the pore of the channel where ions flow (Kordasiewicz et al., 2006).
Changes in the CACNA1A gene have been found in individuals with episodic ataxia, familial hemiplegic migraines, and spinocerebellar ataxia.
A change in the CACNA1A gene was also identified in a UDN participant and other patients with similar symptoms (Luo et al, 2017). Families affected by this condition have formed a Facebook group to connect with one another and share information.
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