Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy-Reference-Cited by-同舟云学术

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Published:2019-05-21 Issue: Volume:10 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Demos Michelle,Guella Ilaria,DeGuzman Conrado,McKenzie Marna B.,Buerki Sarah E.,Evans Daniel M.,Toyota Eric B.,Boelman Cyrus,Huh Linda L.,Datta Anita,Michoulas Aspasia,Selby Kathryn,Bjornson Bruce H.,Horvath Gabriella,Lopez-Rangel Elena,van Karnebeek Clara D. M.,Salvarinova Ramona,Slade Erin,Eydoux Patrice,Adam Shelin,Van Allen Margot I.,Nelson Tanya N.,Bolbocean Corneliu,Connolly Mary B.,Farrer Matthew J.

Publisher

Frontiers Media SA

Subject

Clinical Neurology,Neurology

Reference46 articles.

1. Next generation sequencing methods for diagnosis of epilepsy syndromes;Dunn;Front Genet.,2018

2. Targeted next generation sequencing as a diagnostic tool in epileptic disorders;Lemke;Epilepsia.,2012

3. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy;Helbig;Genet Med.,2016

4. Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion;Allen;Epilepsia.,2016

5. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform;Della;Eur J Hum Genet.,2015

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