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  • Mefford, Heather CDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA (författare)

Rare copy number variants are an important cause of epileptic encephalopathies

  • Artikel/kapitelEngelska2011

Förlag, utgivningsår, omfång ...

  • 2011-12-21
  • Wiley,2011
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-166487
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-166487URI
  • https://doi.org/10.1002/ana.22645DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • OBJECTIVE:Rare copy number variants (CNVs)-deletions and duplications-have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed.METHODS:We evaluated 315 patients with epileptic encephalopathies characterized by epilepsy and progressive cognitive impairment for rare CNVs using a high-density, exon-focused, whole-genome oligonucleotide array.RESULTS:We found that 25 of 315 (7.9%) of our patients carried rare CNVs that may contribute to their phenotype, with at least one-half being clearly or likely pathogenic. We identified 2 patients with overlapping deletions at 7q21 and 2 patients with identical duplications of 16p11.2. In our cohort, large deletions were enriched in affected individuals compared to controls, and 4 patients harbored 2 rare CNVs. We screened 2 novel candidate genes found within the rare CNVs in our cohort but found no mutations in our patients with epileptic encephalopathies. We highlight several additional novel candidate genes located in CNV regions.INTERPRETATION:Our data highlight the significance of rare CNVs in the epileptic encephalopathies, and we suggest that CNV analysis should be considered in the genetic evaluation of these patients. Our findings also highlight novel candidate genes for further study.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Yendle, Simone CEpilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia (författare)
  • Hsu, CynthiaDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA (författare)
  • Cook, JosephDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA (författare)
  • Geraghty, EileenDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA (författare)
  • McMahon, Jacinta MEpilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia (författare)
  • Eeg-Olofsson, Orvar,1932-Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten(Swepub:uu)orvareo (författare)
  • Sadleir, Lynette GDepartments of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand (författare)
  • Gill, DeepakT.Y. Nelson Department of Neurology, the Children's Hospital at Westmead, University of Sydney, Westmead, Australia (författare)
  • Ben-Zeev, BruriaPediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center, Tel Aviv University, Tel-Aviv, Israel (författare)
  • Lerman-Sagie, TallyPediatric Neurology Unit, Wolfson Medical Center, Holon, Israel (författare)
  • Mackay, MarkDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia (författare)
  • Freeman, Jeremy LDepartment of Neurology, Royal Children's Hospital, Australia (författare)
  • Andermann, EvaDepartments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal Quebec, Canada (författare)
  • Pelakanos, James TDepartment of Paediatric Neurology, Royal Children's Hospital, Brisbane, Australia (författare)
  • Andrews, IanDepartment of Neurology, Sydney Children's Hospital, Sydney, Australia (författare)
  • Wallace, GeoffreyDepartment of Paediatric Neurology, Mater Medical Centre and Royal Children's Hospital, South Brisbane, Australia (författare)
  • Eichler, Evan EDepartment of Genome Sciences, University of Washington, Seattle, WA (författare)
  • Berkovic, Samuel FEpilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia (författare)
  • Scheffer, Ingrid EEpilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia (författare)
  • Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WAEpilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Annals of Neurology: Wiley70:6, s. 974-9850364-51341531-8249

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