Mutations inKCNT1cause a spectrum of focal epilepsies-Reference-Cited by-同舟云学术

Mutations inKCNT1cause a spectrum of focal epilepsies

Published:2015-06-30 Issue:9 Volume:56 Page:e114-e120
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Møller Rikke S.¹²,Heron Sarah E.³⁴,Larsen Line H. G.⁵,Lim Chiao Xin³⁴,Ricos Michael G.³⁴,Bayly Marta A.³⁴,van Kempen Marjan J. A.⁶,Klinkenberg Sylvia⁷,Andrews Ian⁸⁹,Kelley Kent¹⁰,Ronen Gabriel M.¹¹,Callen David¹¹,McMahon Jacinta M.¹²,Yendle Simone C.¹²,Carvill Gemma L.¹³,Mefford Heather C.¹³,Nabbout Rima¹⁴,Poduri Annapurna¹⁵,Striano Pasquale¹⁶^ORCID,Baglietto Maria G.¹⁶,Zara Federico¹⁷,Smith Nicholas J.¹⁸¹⁹,Pridmore Clair¹⁸,Gardella Elena¹,Nikanorova Marina¹²,Dahl Hans Atli⁵,Gellert Pia¹,Scheffer Ingrid E.¹²²⁰²¹,Gunning Boudewijn²²,Kragh-Olsen Bente²³,Dibbens Leanne M.³⁴

Affiliation:

1. Danish Epilepsy Center; Dianalund Denmark

2. Institute for Regional Health Services; University of Southern Denmark; Odense Denmark

3. Epilepsy Research Program; School of Pharmacy and Medical Sciences; University of South Australia; Adelaide South Australia Australia

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

5. Amplexa Genetics; Odense Denmark

6. Department of Medical Genetics; University Medical Centre Utrecht; Utrecht The Netherlands

7. Department of Neurology; Maastricht University Medical Center; Maastricht The Netherlands

8. Neurology Service; Sydney Children's Hospital; Randwick New South Wales Australia

9. School of Women's and Children's Health; University of New South Wales; Kensington New South Wales Australia

10. NorthShore University HealthSystem; Evanston Illinois U.S.A

11. Department of Pediatrics; McMaster University; Hamilton Ontario Canada

12. Department of Medicine; Austin Health; The University of Melbourne; Heidelberg Victoria Australia

13. Division of Genetic Medicine; Department of Pediatrics; University of Washington; Seattle Washington U.S.A

14. Department of Pediatric Neurology; Reference Center for Rare Epilepsies; Hospital Necker-Enfants Malades; Paris France

15. Epilepsy Genetics Program; Division of Epilepsy and Clinical Neurophysiology; Department of Neurology; Boston Children's Hospital; Boston Massachusetts U.S.A

16. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health; G. Gaslini Institute; University of Genoa; Genova Italy

17. Laboratory of Neurogenetics; Department of Neurosciences; G. Gaslini Institute; Genova Italy

18. Department of Neurology; Women's and Children's Health Network; Adelaide South Australia Australia

19. School of Paediatrics and Reproductive Health; University of Adelaide; Adelaide South Australia Australia

20. Florey Institute for Neuroscience and Mental Health; The University of Melbourne; Parkville Victoria Australia

21. Department of Paediatrics; Royal Children's Hospital; The University of Melbourne; Melbourne Victoria Australia

22. SEIN - Epilepsy Institutes in the Netherlands Foundation; Zwolle The Netherlands

23. Department of Pediatrics; Aarhus University Hospital; Aarhus Denmark

Funder

National Health and Medical Research Council of Australia

Career Development Fellowship

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13071/fullpdf

Reference15 articles.

1. For K+ channel, Na+ is the new Ca2+;Battacharjee;Trends Neurosci,2005

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

3. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat Genet,2012

4. Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy;Vanderver;Pediatr Neurol,2014

5. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis;Martin;Hum Mol Genet,2014

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