Sökning: WFRF:(Pelakanos James T) > Rare copy number va...
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000 | 05732naa a2200553 4500 | |
001 | oai:DiVA.org:uu-166487 | |
003 | SwePub | |
008 | 120112s2011 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1664872 URI |
024 | 7 | a https://doi.org/10.1002/ana.226452 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Mefford, Heather Cu Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut |
245 | 1 0 | a Rare copy number variants are an important cause of epileptic encephalopathies |
264 | c 2011-12-21 | |
264 | 1 | b Wiley,c 2011 |
338 | a print2 rdacarrier | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
700 | 1 | a Yendle, Simone Cu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut |
700 | 1 | a Hsu, Cynthiau Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut |
700 | 1 | a Cook, Josephu Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut |
700 | 1 | a Geraghty, Eileenu Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut |
700 | 1 | a McMahon, Jacinta Mu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut |
700 | 1 | a Eeg-Olofsson, Orvar,d 1932-u Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten4 aut0 (Swepub:uu)orvareo |
700 | 1 | a Sadleir, Lynette Gu Departments of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand4 aut |
700 | 1 | a Gill, Deepaku T.Y. Nelson Department of Neurology, the Children's Hospital at Westmead, University of Sydney, Westmead, Australia4 aut |
700 | 1 | a Ben-Zeev, Bruriau Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center, Tel Aviv University, Tel-Aviv, Israel4 aut |
700 | 1 | a Lerman-Sagie, Tallyu Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel4 aut |
700 | 1 | a Mackay, Marku Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia4 aut |
700 | 1 | a Freeman, Jeremy Lu Department of Neurology, Royal Children's Hospital, Australia4 aut |
700 | 1 | a Andermann, Evau Departments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal Quebec, Canada4 aut |
700 | 1 | a Pelakanos, James Tu Department of Paediatric Neurology, Royal Children's Hospital, Brisbane, Australia4 aut |
700 | 1 | a Andrews, Ianu Department of Neurology, Sydney Children's Hospital, Sydney, Australia4 aut |
700 | 1 | a Wallace, Geoffreyu Department of Paediatric Neurology, Mater Medical Centre and Royal Children's Hospital, South Brisbane, Australia4 aut |
700 | 1 | a Eichler, Evan Eu Department of Genome Sciences, University of Washington, Seattle, WA4 aut |
700 | 1 | a Berkovic, Samuel Fu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut |
700 | 1 | a Scheffer, Ingrid Eu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut |
710 | 2 | a Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WAb Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 org |
773 | 0 | t Annals of Neurologyd : Wileyg 70:6, s. 974-985q 70:6<974-985x 0364-5134x 1531-8249 |
856 | 4 | u https://europepmc.org/articles/pmc3245646?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-166487 |
856 | 4 8 | u https://doi.org/10.1002/ana.22645 |
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