IndraLab

Statements

KCNA1 activates episodic ataxia type 1. 3 / 3
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reach
"Although the classic phenotype of episodic ataxia type 1 (EA1) caused by variants in KCNA1 includes episodic ataxia and myokymia, further genotype-phenotype correlations are difficult to establish due to highly heterogeneous clinical presentations associated with KCNA1 pathogenic variants."
33355533
reach
"For example, episodic ataxia type 1 (EA1; characterized by spells of incoordination and imbalance) is caused by mutations in the KCNA1 gene (Kv1.1)."
27619418
reach
"Mutations in the KCNA1 gene, which encodes for the alpha subunit of the voltage gated potassium channel Kv1.1, cause episodic ataxia type 1 (EA1)."
22206926