episodic ataxia type 2

Summary
Definition
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
Super Class
episodic ataxia
Disease Ontology
DOID:0050990
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
773 CACNA1A calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: March 31, 2025