Article
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Human molecular genetics - 15 Jun 2014
Martin Hilary C, Kim Grace E, Pagnamenta Alistair T, Murakami Yoshiko, Carvill Gemma L, Meyer Esther, Copley Richard R, Rimmer Andrew, Barcia Giulia, Fleming Matthew R, Kronengold Jack, Brown Maile R, Hudspith Karl A, Broxholme John, Kanapin Alexander, Cazier Jean-Baptiste, Kinoshita Taroh, Nabbout Rima, Bentley David, McVean Gil, Heavin Sinéad, Zaiwalla Zenobia, McShane Tony, Mefford Heather C, Shears Deborah, Stewart Helen, Kurian Manju A, Scheffer Ingrid E, Blair Edward, Donnelly Peter, Kaczmarek Leonard K, Taylor Jenny C
Abstract excerpt
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with...
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