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Refractory Infantile Spasms Associated With Mosaic Variegated . . . We report the case of a boy who showed microcephaly, severe developmental delay, intractable infantile spasms with hypsarrhythmia, and Dandy-Walker malformation on magnetic resonance imaging Mosaic variegated aneuploidy was finally diagnosed
Genetic heterogeneity in infantile spasms - PMC Most individuals had undergone testing for known genetic causes of infantile spasms, but this was not required for study inclusion Individuals with a family history of epilepsy in first-degree relatives were excluded
The genetic landscape of infantile spasms - PubMed Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders