IndraLab

Statements

CACNA1A activates MTSS1. 3 / 3
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"Mutations of KCNA1 and CACNA1A cause episodic ataxia 1 (EA1 : MIM # 160120) and episodic ataxia 2 (EA2 : MIM # 108500), respectively."
12736095
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"Additionally, several brain SPECT studies in patients with SCA6 (MIM: 183086) caused by a CAG trinucleotide repeat expansion in the CACNA1A gene have been reported ."
38221525
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"Additionally, heterozygous variants in paralogous CACNA1A are known to cause episodic ataxia, type 2 (MIM: 601011), as well as epileptic encephalopathy (MIM: 617106) ."
30931947