A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation

Infantile epileptic spasms syndrome (IESS), also known as West syndrome (WS), is one of the most common forms of epileptic encephalopathies occurring in infancy. IESS is characterized by epileptic spasms typically occurring in clusters, hypsarrhythmia on electroencephalogram (EEG), and developmental stagnation or regression. Structural brain abnormalities are occasionally evident, including acquired or congenital lesions, and genetic etiologies are also common, including trisomy 21, and mutations in ARX, CDKL5, STXBP1, IQSEC2, TSC1, and TSC2 [1].