IndraLab

Statements

Mutated CACNA1A activates episodic ataxia type 2. 3 / 3
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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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"In contrast, episodic ataxia type 2 is characterized by episodes of cerebellar ataxia, migraine, and interictal nystagmus, and is caused by nonsense mutations of CACNA1A."
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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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