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Rare copy number variants are an important cause of epileptic encephalopathies

Mefford, Heather C (författare)
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA
Yendle, Simone C (författare)
Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia
Hsu, Cynthia (författare)
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA
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Cook, Joseph (författare)
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA
Geraghty, Eileen (författare)
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA
McMahon, Jacinta M (författare)
Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia
Eeg-Olofsson, Orvar, 1932- (författare)
Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten
Sadleir, Lynette G (författare)
Departments of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand
Gill, Deepak (författare)
T.Y. Nelson Department of Neurology, the Children's Hospital at Westmead, University of Sydney, Westmead, Australia
Ben-Zeev, Bruria (författare)
Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center, Tel Aviv University, Tel-Aviv, Israel
Lerman-Sagie, Tally (författare)
Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
Mackay, Mark (författare)
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia
Freeman, Jeremy L (författare)
Department of Neurology, Royal Children's Hospital, Australia
Andermann, Eva (författare)
Departments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal Quebec, Canada
Pelakanos, James T (författare)
Department of Paediatric Neurology, Royal Children's Hospital, Brisbane, Australia
Andrews, Ian (författare)
Department of Neurology, Sydney Children's Hospital, Sydney, Australia
Wallace, Geoffrey (författare)
Department of Paediatric Neurology, Mater Medical Centre and Royal Children's Hospital, South Brisbane, Australia
Eichler, Evan E (författare)
Department of Genome Sciences, University of Washington, Seattle, WA
Berkovic, Samuel F (författare)
Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia
Scheffer, Ingrid E (författare)
Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia
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 (creator_code:org_t)
2011-12-21
2011
Engelska.
Ingår i: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 70:6, s. 974-985
Relaterad länk:
https://europepmc.or...
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https://urn.kb.se/re...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Neurosciences (hsv//eng)

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