IndraLab

Statements

CACNA1A activates Episodic ataxia type 2. 6 / 6
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"Episodic ataxia type 2 is caused by mutations in CACNA1A, which encodes the pore forming subunit of the neuronal voltage gated calcium channel Cav2.1."
26912519
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"Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years."
16186543
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"Episodic ataxia type 2 is caused by mutations in CACNA1A, which encodes the pore forming subunit of the voltage gated calcium channel Ca v 2.1."
26912519
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"Episodic ataxia type 2 (EA-2) is caused most frequently by CACNA1A frameshift mutations or truncations as well as missense mutations that result in Cav2.1 loss of function [XREF_BIBR - XREF_BIBR]."
24307138
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"Episodic ataxia type 2 (EA2) is characterized by prolonged episodes of ataxia with interictal nystagmus and is caused by mutations in CACNA1A."
18541804
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"Episodic ataxia type 2 (EA2) is caused by mutations in CACNA1A."
19633872