childhood onset GLUT1 deficiency syndrome 2

Summary
Definition
A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
Super Class
autosomal dominant disease dystonia
External Links
Disease Ontology
DOID:0090045
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1892 ECHS1 enoyl-CoA hydratase, short chain 1
6513 SLC2A1 solute carrier family 2 member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P30084 Enoyl-CoA hydratase, mitochondrial

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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: August 19, 2024