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episodic ataxia type 9

Summary
Definition
An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23.
Super Class
autosomal dominant disease episodic ataxia
Disease Ontology
DOID:0060965
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6326 SCN2A sodium voltage-gated channel alpha subunit 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99250 Sodium channel protein type 2 subunit alpha
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: February 17, 2025