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X-linked infantile spasms

X-linked infantile spasms is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation.

Etiology

- mutations in the aristaless-related homeobox gene (ARX) (Xp21.3-p22.1)
- mutations in the serine-threonine kinase 9 (STK9) gene (Xp22.3) (#12736870#)