Tuberous sclerosis as an underlying basis for infantile spasm

RS Yeung - International review of neurobiology, 2002 - Elsevier
Tuberous sclerosis (TSC) is an autosomal-dominant syndrome that strongly predisposes the
affected individual to early onset epilepsy, including infantile spasms (IS)(Gomez et al.,
1999). It has been estimated that 20-25% of IS are attributable to TSC. Unlike other forms of
idiopathic epilepsy, the pathologic basis of TSC-related epilepsy was noted in one of the
earliest description of this disease by Bourneville (1880). In his account of an autopsy of a
15-year-old girl who died of complications from a seizure disorder, the presence of raised …