Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
benign familial infantile epilepsy  
childhood absence epilepsy +   
Dravet syndrome  
epilepsy with generalized tonic-clonic seizures +   
Generalized Epilepsy and Paroxysmal Dyskinesia  
generalized epilepsy with febrile seizures plus +   
idiopathic generalized epilepsy +   
Myoclonic-Atonic Epilepsy  
Nodding Syndrome 
Photoparoxysmal Response 2 
West syndrome +   
An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)

Synonyms
Exact Synonyms: Cryptogenic Infantile Spasm ;   Cryptogenic Infantile Spasms ;   Cryptogenic West Syndrome ;   Hypsarrhythmia ;   Hypsarrhythmias ;   Infantile Spasm ;   Infantile Spasms ;   Jackknife Seizure ;   Jackknife Seizures ;   Lightning Attack ;   Lightning Attacks ;   Nodding Spasm ;   Nodding Spasms ;   Salaam Attacks ;   Salaam Seizures ;   Spasmus Nutans ;   Symptomatic Infantile Spasm ;   Symptomatic Infantile Spasms ;   Symptomatic West Syndrome
Narrow Synonyms: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT ;   EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE ;   Neonatal encephalopathy with seizures
Related Synonyms: Infantile spasms syndrome
Primary IDs: MESH:D013036
Alternate IDs: DOID:9006426 ;   OMIA:001471 ;   RDO:0000594 ;   RDO:9002868
Xrefs: GARD:7887 ;   ORDO:3451
Definition Sources: https://rarediseases.org/rare-diseases/west-syndrome/, https://www.ncbi.nlm.nih.gov/pubmed/24268986

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.