KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine-Reference-Cited by-同舟云学术

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

Published:2014-04 Issue:4 Volume:75 Page:581-590
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Milligan Carol J.¹,Li Melody¹,Gazina Elena V.¹,Heron Sarah E.²³,Nair Umesh¹,Trager Chantel¹,Reid Christopher A.¹,Venkat Anu⁴⁵,Younkin Donald P.⁵,Dlugos Dennis J.⁴⁵,Petrovski Slavé⁶⁷,Goldstein David B.⁶,Dibbens Leanne M.²³,Scheffer Ingrid E.¹⁸⁹,Berkovic Samuel F.⁸,Petrou Steven¹¹⁰¹¹

Affiliation:

1. Ion Channels and Disease Group, Epilepsy Division; Florey Institute of Neuroscience and Mental Health; Parkville Australia

2. School of Pharmacy and Medical Sciences; University of South Australia; Adelaide Australia

3. Sansom Institute for Health Research, University of South Australia; Adelaide Australia

4. Perelman School of Medicine; University of Pennsylvania; Philadelphia PA

5. Departments of Pediatrics and Neurology; Children's Hospital of Philadelphia; Philadelphia PA

6. Center for Human Genome Variation; Duke University School of Medicine; Durham NC

7. Department of Medicine; Austin Health and Royal Melbourne Hospital, University of Melbourne, Austin Hospital; Heidelberg Australia

8. Epilepsy Research Centre, Department of Medicine; University of Melbourne; Melbourne Australia

9. Department of Paediatrics; University of Melbourne, Royal Children's Hospital; Melbourne Australia

10. Department of Anatomy and Neuroscience; University of Melbourne; Melbourne Australia

11. Centre for Neural Engineering; University of Melbourne; Melbourne Australia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24128/fullpdf

Reference31 articles.

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

4. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy;Heron;Nat Genet,2012

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