Frequency ofCNKSR2mutation in the X-linked epilepsy-aphasia spectrum-Reference-Cited by-同舟云学术

Frequency ofCNKSR2mutation in the X-linked epilepsy-aphasia spectrum

Published:2017-01-18 Issue:3 Volume:58 Page:e40-e43
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Damiano John A.¹,Burgess Rosemary¹^ORCID,Kivity Sara²³,Lerman-Sagie Tally³,Afawi Zaid⁴,Scheffer Ingrid E.¹⁵,Berkovic Samuel F.¹,Hildebrand Michael S.¹

Affiliation:

1. Department of Medicine; Epilepsy Research Centre, Austin Health; University of Melbourne; Heidelberg Victoria Australia

2. Department of Pediatric Neurology and Epilepsy Center; Schneider Children's Medical Center of Israel; Petah Tiqva Israel

3. Pediatric Neurology Unit; Epilepsy Clinic; Wolfson Medical Center; Holon Israel

4. Sackler School of Medicine; Tel-Aviv University; Ramat Aviv Israel

5. Department of Paediatrics; Royal Children's Hospital; University of Melbourne; Parkville Victoria Australia

Funder

National Health and Medical Research Council

UCB Pharma

Novartis Pharmaceuticals

Sanofi-Aventis Korea Company

GlaxoSmithKline

Eisai

Athena Diagnostics, and Transgenomics

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13666/fullpdf

Reference13 articles.

1. Clinical genetic study of the epilepsy-aphasia spectrum;Tsai;Epilepsia,2013

2. GRIN2A mutations cause epilepsy-aphasia spectrum disorders;Carvill;Nat Genet,2013

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

4. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes;Lemke;Nat Genet,2013

5. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction;Lesca;Nat Genet,2013

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