West syndrome

Summary
Definition
An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
Super Class
infancy electroclinical syndrome
Disease Ontology
DOID:0050562
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
1072 CFL1 cofilin 1
4158 MC2R melanocortin 2 receptor
6812 STXBP1 syntaxin binding protein 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12631 Cfl1 cofilin 1, non-muscle
17200 Mc2r melanocortin 2 receptor
20910 Stxbp1 syntaxin binding protein 1

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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: December 9, 2024