| H01460 | |
| H number | H01460 |
| Name | West syndrome; Infantile spasms |
| Description | West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia), and (c) intellectual or neurodevelopmental disabilities. Most cases present at peak age of onset between 3 and 7 months, with 90% of patients presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes central nervous system malformations, intrauterine insults, neurocutaneous syndromes such as tuberous sclerosis complex (TSC), metabolic disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin. |
| Category | Nervous system disease |
| Network | - |
| Gene | ARX [HSA:170302] [KO:K09452] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Vigabatrin [DR:D00535] |
| Comment | - |
| Other DBs | ICD-11: 8A62.0 ICD-10: G40.4 MeSH: D013036 OMIM: 308350 |
| Reference | PMID:25968935 AUTHORS Galanopoulou AS, Moshe SL TITLE Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies. JOURNAL Neurobiol Dis 79:135-49 (2015) DOI:10.1016/j.nbd.2015.04.015 PMID:23312951 AUTHORS Galanopoulou AS TITLE Basic mechanisms of catastrophic epilepsy -- overview from animal models. JOURNAL Brain Dev 35:748-56 (2013) DOI:10.1016/j.braindev.2012.12.005 PMID:20618396 AUTHORS Chudomelova L, Scantlebury MH, Raffo E, Coppola A, Betancourth D, Galanopoulou AS TITLE Modeling new therapies for infantile spasms. JOURNAL Epilepsia 51 Suppl 3:27-33 (2010) DOI:10.1111/j.1528-1167.2010.02605.x PMID:20608959 AUTHORS Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, Gaillard WD, Gibson PA, Holmes GL, Nordl DR, O'Dell C, Shields WD, Trevathan E, Wheless JW TITLE Infantile spasms: a U.S. consensus report. JOURNAL Epilepsia 51:2175-89 (2010) DOI:10.1111/j.1528-1167.2010.02657.x PMID:17668384 AUTHORS Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K TITLE A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). JOURNAL Am J Hum Genet 81:361-6 (2007) DOI:10.1086/518903 |