The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy

Comment

Heather C Mefford. Epilepsy Curr. 2019 Sep.

. 2019 Sep;19(5):307-309.

doi: 10.1177/1535759719871593. Epub 2019 Sep 2.

Abstract

[Box: see text].

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, van Mierlo P, Braakman HMH, Smeets EE, Nicolai J, Schoots J, Teunissen MWA, Rouhl RPW, Tan IY, Yntema HG, Brunner HG, Pfundt R, Stegmann AP, Kamsteeg EJ, Schelhaas HJ, Willemsen MH. Snoeijen-Schouwenaars FM, et al. Epilepsia. 2019 Jan;60(1):155-164. doi: 10.1111/epi.14618. Epub 2018 Dec 7. Epilepsia. 2019. PMID: 30525188
Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Sánchez Fernández I, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Sánchez Fernández I, et al. Neurology. 2019 Jan 28;92(5):e418-e428. doi: 10.1212/WNL.0000000000006850. Neurology. 2019. PMID: 30610098 Free PMC article.

1. Myers CT, Mefford HC. Advancing epilepsy genetics in the genomic era. Genome Med. 2015;7(1):91. - PMC - PubMed
1. Møller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics. Expert Rev Mol Diagn. 2015;15(12):1531–1538. - PubMed
1. Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501(7466):217–221. - PMC - PubMed
1. Heyne HO, Singh T, Stamberger H, et al. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018;50(7):1048–1053. - PubMed
1. Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014;75(6):943–958. - PMC - PubMed