IndraLab

Statements


CACNA1A inhibits EA2. 3 / 3
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"Deletion of several exons of CACNA1A may cause EA2 and should be assessed in patients having EA2 without a CACNA1A point mutation."

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"In contrast to FHM1, EA2 is caused by loss-of-function mutations in CACNA1A."

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"EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A."