Journal article
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Annals of neurology, v 78(2), pp 323-328
Aug 2015
PMID: 26068938
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome‐predicted CNVs by array‐based methods is still required due to false‐positive rates of prediction algorithms. Our exome‐based results are consistent with recent array‐based studies in similar cohorts and highlight novel candidate genes for IS and LGS. Ann Neurol 2015;78:323–328
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Details
- Title
- Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
- Creators
- Andrew S. AllenSamuel F. BerkovicBradley P. CoeJoseph CookPatrick CossetteNorman DelantyDennis DlugosEvan E. EichlerMichael P. EpsteinTracy GlauserDavid B. GoldsteinErin L. HeinzenMichael R. JohnsonNik KrummRuben KuznieckyDaniel H. LowensteinAnthony G. MarsonHeather C. MeffordBen NelsonSahar Esmaeeli NiehTerence J. O'BrienRuth OttmanStephen PetrouSlavé PetrovskiAnnapurna PoduriArchana RajaElizabeth K. RuzzoIngrid E. SchefferElliott SherrBassel Abou-KhalilBrian K. AlldredgeEva AndermannFrederick AndermannDina AmronJocelyn F. BautistaAlex BoroGregory CascinoDamian ConsalvoPatricia CrumrineOrrin DevinskyMiguel FiolNathan B. FountainJacqueline FrenchDaniel FriedmanEric B. GellerSimon GlynnSheryl R. HautJean HaywardSandra L. HelmersSucheta JoshiAndres KannerHeidi E. KirschRobert C. KnowltonEric H. KossoffRachel KupermanShannon M. McGuirePaul V. MotikaEdward J. NovotnyJuliann M. PaolicchiJack ParentKristen ParkRenée A. ShellhaasJerry J. ShihEpi4K ConsortiumRani SinghJoseph SirvenMichael C. SmithJoe SullivanLiu Lin ThioAnu VenkatEileen P.G. ViningGretchen K. Von AllmenJudith L. WeisenbergPeter Widdess-WalshMelodie R. Winawer
- Publication Details
- Annals of neurology, v 78(2), pp 323-328
- Publisher
- John Wiley and Sons Inc
- Grant note
- U01NS077274; U01NS077276; U01NS077303; U01NS077364; U01NS077275 / NIH National Institute of Neurological Disorders and Stroke Center Without Walls U01NS053998 / Epilepsy Phenome/Genome Project
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Medicine (Graduate)
- Web of Science ID
- WOS:000358501600016
- Scopus ID
- 2-s2.0-84937728425
- Other Identifier
- 991021838274104721
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- Web of Science research areas
- Clinical Neurology
- Neurosciences