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
External Links
Disease Ontology
DOID:0050562
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5373 PMM2 phosphomannomutase 2
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
7355 SLC35A2 solute carrier family 35 member A2
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q

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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