Article
The genetic landscape of infantile spasms.
Human molecular genetics - 15 Sept 2014
Michaud Jacques L, Lachance Mathieu, Hamdan Fadi F, Carmant Lionel, Lortie Anne, Diadori Paola, Major Philippe, Meijer Inge A, Lemyre Emmanuelle, Cossette Patrick, Mefford Heather C, Rouleau Guy A, Rossignol Elsa
Abstract excerpt
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 known epilepsy genes (n = 8) or whole-exome sequencing...
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