De novoKCNB1mutations in epileptic encephalopathy-Reference-Cited by-同舟云学术

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De novoKCNB1mutations in epileptic encephalopathy

Published:2014-09-19 Issue:4 Volume:76 Page:529-540
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Torkamani Ali¹,Bersell Kevin²,Jorge Benjamin S.³,Bjork Robert L.⁴⁵,Friedman Jennifer R.⁶,Bloss Cinnamon S.¹,Cohen Julie⁷,Gupta Siddharth⁷⁸,Naidu Sakkubai⁷⁸,Vanoye Carlos G.⁹¹⁰,George Alfred L.²⁹¹⁰,Kearney Jennifer A.⁹¹⁰

Affiliation:

1. Scripps Translational Science Institute; Scripps Health, and Scripps Research Institute; San Diego CA

2. Department of Pharmacology; Vanderbilt University; Nashville TN

3. Vanderbilt Brain Institute; Vanderbilt University; Nashville TN

4. Department of Pediatrics; Scripps Health; San Diego CA

5. Sea Breeze Pediatrics; San Diego CA

6. Departments of Neurosciences and Pediatrics; University of California, San Diego; San Diego CA

7. Kennedy Krieger Institute; Baltimore MD

8. Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore MD

9. Department of Medicine; Vanderbilt University; Nashville TN

10. Department of Pharmacology; Northwestern University Feinberg School of Medicine; Chicago IL

Funder

National Institutes of Health

Anne and Harry Zarrow Foundation

Shaffer Family Foundation

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference39 articles.

1. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

2. Diagnostic delays in children with early onset epilepsy: impact, reasons, and opportunities to improve care;Berg;Epilepsia,2014

3. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy;Brunklaus;Dev Med Child Neurol,2013

4. SCN1A testing for epilepsy: application in clinical practice;Hirose;Epilepsia,2013

5. De novo mutations in epileptic encephalopathies;Allen;Nature,2013

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4. A novel autism-associated KCNB1 mutation dramatically slows Kv2.1 potassium channel activation, deactivation and inactivation;Frontiers in Cellular Neuroscience;2024-07-29

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