The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome-Reference-Cited by-同舟云学术

The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Published:2015-11-05 Issue:12 Volume:56 Page:e203-e208
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Larsen Jan¹,Johannesen Katrine Marie¹,Ek Jakob²,Tang Shan³,Marini Carla⁴,Blichfeldt Susanne⁵,Kibaek Maria⁵,von Spiczak Sarah⁶,Weckhuysen Sarah⁷⁸⁹,Frangu Mimoza¹⁰,Neubauer Bernd Axel¹¹,Uldall Peter¹²,Striano Pasquale¹³^ORCID,Zara Federico¹⁴,Kleiss Rebecca⁶,Simpson Michael¹⁵,Muhle Hiltrud⁶,Nikanorova Marina¹¹⁶,Jepsen Birgit¹,Tommerup Niels¹⁷,Stephani Ulrich⁶,Guerrini Renzo⁴,Duno Morten²,Hjalgrim Helle¹¹⁵,Pal Deb¹⁸,Helbig Ingo⁵¹⁹,Møller Rikke Steensbjerre¹¹⁶,

Affiliation:

1. Danish Epilepsy Center; Dianalund Denmark

2. Department of Clinical Genetics; University Hospital; Rigshospitalet; Copenhagen Denmark

3. Department of Neuropediatrics; Herlev Hospital; Herlev Denmark

4. Neurology Unit and Neurogenetic Laboratories; Meyer Children's Hospital; Florence Italy

5. Department of Neuropediatrics; Odense University Hospital Denmark; Odense Denmark

6. Department of Neuropediatrics; University Medical Center Schleswig-Holstein; Kiel Germany

7. Neurogenetics Group; Department of Molecular Genetics; VIB; Antwerp Belgium

8. Laboratory of Neurogenetics; Institute Born-Bunge; University of Antwerp; Antwerp Belgium

9. INSERM U 1127; The National Scientific Research Center UMR7225; University of Pierre and Marie Curie (Paris 6) UMR 1127; The Brain and Spinal Institute; University of Sorbonne; Paris France

10. Department of Pediatrics; Holbaek Hospital; Holbaek Denmark

11. Department of Neuropediatrics; University Medical Center Giessen and Marburg; Giessen Germany

12. Pediatric Neurology Clinic; Rigshospitalet; Copenhagen Denmark

13. Institute of Pediatric Neurology and Muscular Diseases; Department of Neuroscience; Rehabilitation; Ophthalmology; Genetics and Maternal-Infant Science; Institute of G. Gaslini; University of Genova; Genova Italy

14. Laboratory of Neurogenetics; Department of Neurosciences; Giannina Gaslini Institute; Genova Italy

15. Department of Medical and Molecular Genetics; King's College London; Guy's Hospital; London United Kingdom

16. Institute for Regional Health Research; University of Southern Denmark; Odense Denmark

17. Department of Cellular and Molecular Medicine; Johannsen Center for Functional Genome Research; University of Copenhagen; Wilhelm Copenhagen Denmark

18. Institute of Psychiatry, Psychology and Neuroscience; King's College London; London United Kingdom

19. Division of Neurology; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania U.S.A

Funder

Wilhelm Johannsen Centre for Functional Genome Research

German Chapter of the International League Against Epilepsy (DGfE)

Institute for Cellular and Molecular Medicine

University of Copenhagen

University of Kiel

German Research Foundation

EuroEPINOMICS framework of the European Science Foundation

PopGen 2.0 network (P2N)

German Ministry for Education and Research