Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novoGRIN2Amutation-Reference-Cited by-同舟云学术

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novoGRIN2Amutation

Published:2014-06-05 Issue:7 Volume:55 Page:e75-e79
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Venkateswaran Sunita¹,Myers Ken A.²,Smith Amanda C.³,Beaulieu Chandree L.³,Schwartzentruber Jeremy A.⁴,Majewski Jacek⁴,Bulman Dennis³,Boycott Kym M.³⁵,Dyment David A.³⁵,

Affiliation:

1. Division of Neurology; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

2. Department of Pediatric Neurology; Alberta Children's Hospital; Calgary Alberta Canada

3. Children's Hospital of Eastern Ontario Research Institute; Ottawa Ontario Canada

4. McGill University and Genome Quebec Innovation Centre; Montréal Québec Canada

5. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

Funder

Government of Canada

Canadian Institutes of Health Research (CIHR)

Ontario Genomics Institute

Genome Quebec and Genome British Columbia

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12663/fullpdf

Reference15 articles.

1. Genetics of the epilepsies: where are we and where are we going?;Helbig;Curr Opin Neurol,2013

2. Targeted next generation sequencing as a diagnostic tool in epileptic disorders;Lemke;Epilepsia,2012

3. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies;Veeramah;Epilepsia,2013

4. Diagnostic exome sequencing in persons with severe intellectual disability;Ligt;N Engl J Med,2012

5. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes;Endele;Nat Genet,2010

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