West syndrome

Also known as: Infantile spasms

Infantile spasms with hypsarrhythmia and developmental regression.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric neurology
Sex & age distribution: Male: affected, male predominance; Female: affected; Children: yes, 3–8 months
Gene(s) involved: ARX, CDKL5, SPTAN1, STXBP1, TSC1, TSC2

Etiology & mechanism

Diverse brain insults with epileptic encephalopathy.

Gene(s) involved (6)

ARXCDKL5SPTAN1STXBP1TSC1TSC2

Symptoms & signs (5)

developmental regressionhypsarrhythmiainfantile spasmsirritabilitymental retardation

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.