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

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 Pasquale13ORCID,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

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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