IndraLab

Statements

Mutated CACNA1A activates EA2. 3 / 3
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"Different mutations of the CACNA1A genes, which encode the immunogenic alpha-1A VGCC subunit (Ca v 2.1), can produce the autosomal dominant SCA type 6, episodic ataxia type 2 (EA2) or familial hemiplegic migraine 1 (FHM1)."
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"CACNA1A mutations underlie three allelic disorders : familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6."
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"EA2 is caused by CACNA1A mutations that mostly result in truncation of the encoded Ca V 2.1 alpha 1A channel subunit, while missense mutations have also been reported [XREF_BIBR]."
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