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.

1. Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability;Derry;Epilepsia,2008

2. Migrating partial seizures in infancy: a malignant disorder with developmental arrest;Coppola;Epilepsia,1995

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

Cited by 255 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons;2024-08-28

2. Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons;2024-08-28

3. Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons;2024-08-07

4. WONOEP appraisal: Modeling early onset epilepsies;Epilepsia;2024-07-23

5. New epilepsy therapies in development;Nature Reviews Drug Discovery;2024-07-22