Article
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Clinical genetics - 1 Jul 2015
Dyment D A, Tétreault M, Beaulieu C L, Hartley T, Ferreira P, Chardon J W, Marcadier J, Sawyer S L, Mosca S J, Innes A M, Parboosingh J S, Bulman D E, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott K M
Abstract excerpt
Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes using WES and translating this technology to patient care. Rare forms of epilepsy are well-suited for WES and we retrospectively selected FORGE and Care4Rare families with clinical descriptions...
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