The genetic landscape of infantile spasms.


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. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35… (More)
DOI: 10.1093/hmg/ddu199


7 Figures and Tables

Blog articles referencing this paper

Slides referencing similar topics