SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Cook Lynette C.)
 

Sökning: WFRF:(Cook Lynette C.) > Rare copy number va...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005732naa a2200553 4500
001oai:DiVA.org:uu-166487
003SwePub
008120112s2011 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1664872 URI
0247 a https://doi.org/10.1002/ana.226452 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Mefford, Heather Cu Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut
2451 0a Rare copy number variants are an important cause of epileptic encephalopathies
264 c 2011-12-21
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
7001 a Yendle, Simone Cu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut
7001 a Hsu, Cynthiau Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut
7001 a Cook, Josephu Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut
7001 a Geraghty, Eileenu Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA4 aut
7001 a McMahon, Jacinta Mu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut
7001 a Eeg-Olofsson, Orvar,d 1932-u Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten4 aut0 (Swepub:uu)orvareo
7001 a Sadleir, Lynette Gu Departments of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand4 aut
7001 a Gill, Deepaku T.Y. Nelson Department of Neurology, the Children's Hospital at Westmead, University of Sydney, Westmead, Australia4 aut
7001 a Ben-Zeev, Bruriau Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center, Tel Aviv University, Tel-Aviv, Israel4 aut
7001 a Lerman-Sagie, Tallyu Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel4 aut
7001 a Mackay, Marku Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia4 aut
7001 a Freeman, Jeremy Lu Department of Neurology, Royal Children's Hospital, Australia4 aut
7001 a Andermann, Evau Departments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal Quebec, Canada4 aut
7001 a Pelakanos, James Tu Department of Paediatric Neurology, Royal Children's Hospital, Brisbane, Australia4 aut
7001 a Andrews, Ianu Department of Neurology, Sydney Children's Hospital, Sydney, Australia4 aut
7001 a Wallace, Geoffreyu Department of Paediatric Neurology, Mater Medical Centre and Royal Children's Hospital, South Brisbane, Australia4 aut
7001 a Eichler, Evan Eu Department of Genome Sciences, University of Washington, Seattle, WA4 aut
7001 a Berkovic, Samuel Fu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut
7001 a Scheffer, Ingrid Eu Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia4 aut
7102 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
7730 t Annals of Neurologyd : Wileyg 70:6, s. 974-985q 70:6<974-985x 0364-5134x 1531-8249
8564 u https://europepmc.org/articles/pmc3245646?pdf=render
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-166487
8564 8u https://doi.org/10.1002/ana.22645

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy