West syndrome

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Information
Disease name
West syndrome
Disease ID
DOID:0050562
Description
"An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability." [url:https\://rarediseases.org/rare-diseases/west-syndrome/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24268986]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
PHACTR1 6 13,013,554 13,287,837 8
TBL1XR1 3 177,019,344 177,197,482 4
DNM1 9 128,203,417 128,255,239 4
KCNT1 9 135,702,185 135,795,502 4
IQSEC2 X 53,232,876 53,321,350 4
PIGA X 15,319,455 15,335,429 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT05279118 Active, not recruiting Phase 2/Phase 3 Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome March 1, 2022 March 28, 2024
NCT01575639 Completed Phase 3 Prednisolone in Infantile Spasms- High Dose Versus Usual Dose February 2012 March 2013
NCT02885389 Completed Molecular Genetics in Infantile Spasms October 2010 July 2012
NCT05126914 Not yet recruiting Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents December 2021 December 2028
NCT04302116 Recruiting N/A Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm May 18, 2020 December 2026
NCT06201897 Recruiting Phase 2/Phase 3 Cortical Excitability in West Syndrome Using Transcranial Magnetic Stimulation March 2024 June 2026
NCT01367964 Unknown status N/A Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) July 2011 December 2018
Disase is a (Disease Ontology)
DOID:0050703
Cross Reference ID (Disease Ontology)
GARD:7887
Cross Reference ID (Disease Ontology)
MESH:D013036
Cross Reference ID (Disease Ontology)
NCI:C84788
Cross Reference ID (Disease Ontology)
ORDO:3451
Disase Synonym (Disease Ontology)
Infantile spasms syndrome
OrphaNumber from OrphaNet (Orphanet)
3451