Genetic diagnoses in epilepsy: the impact of dynamic exome analysis in a pediatric cohort

OBJECTIVE: We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well-phenotyped pediatric patients with epilepsy and suspected but previously undetermined genetic etiology. METHODS: We identified and phenotyped 125 participants with pe...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Epilepsia
Prif Awduron: Rochtus, Anne, Olson, Heather E., Smith, Lacey, Keith, Louisa G., El Achkar, Christelle, Taylor, Alan, Mahida, Sonal, Park, Meredith, Kelly, McKenna, Shain, Catherine, Rockowitz, Shira, Sheidley, Beth Rosen, Poduri, Annapurna
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7404709/
https://ncbi.nlm.nih.gov/pubmed/31957018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16427
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