Published August 1, 2018
| Version v1
Journal article
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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
Authors/Creators
Authors/Creators
- May, Patrick1
- Simon2
- Merle3
- Dheeraj4
- Julian5
- Stefan6
- Felicitas7
- Pamela8
- Caroline9
- Micheline10
- Cristina11
- Julia12
- Carolien13
- Mohamad14
- Anne15
- Michele16
- Rosa17
- Stéphanie18
- Carla19
- Holger20
- Janine21
- Kamel22
- Ann-Kathrin23
- Wiktor24
- Dennis25
- Raffaella26
- Sandrine27
- Benedetta28
- Ian29
- Christopher30
- Pasquale31
- Hande32
- Aulie33
- Kate34
- Rikke35
- Helle36
- Hiltrud37
- Ingo38
- Wolfram39
- Yvonne40
- Sarah41
- Peter42
- Sanjay43
- Rima44
- Silvana45
- Antonietta46
- Maria47
- Dorothée48
- Betul49
- Ugur50
- Nerses51
- Karl52
- Felix53
- Dang54
- François55
- Lionel56
- Anne57
- Richard58
- Jean-François59
- Cécile60
- Graeme61
- Pauls62
- Ben63
- Michael64
- Anthony65
- Bianca66
- Josemir67
- Andreja68
-
McCormack, Mark69
- Gianpiero70
- Norman71
- Chantal72
- Martin73
- Fritz74
- Sarah75
- Marina76
- Robert77
- Jeroen78
- Rudi79
- M Arfan80
- André81
- Giuliano82
- Stephanie83
- Steven84
- Massimo85
- Thomas67
- Eric86
- Jose87
- Bobby88
- Aarno89
- Anna-Elina90
- Michael91
- Peter92
- Snezana93
- Federico94
- Patrick95
- Roland96
- Holger97
- 1. Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg
- 2. Girard
- 3. Harrer
- 4. Bobbili
- 5. Schubert
- 6. Wolking
- 7. Becker
- 8. Lachance-Touchette
- 9. Meloche
- 10. Gravel
- 11. Niturad
- 12. Knaus
- 13. DeKovel
- 14. Toliat
- 15. Polvi
- 16. Iacomino
- 17. Guerrero-López
- 18. Baulac
- 19. Marini
- 20. Thiele
- 21. Altmüller
- 22. Jabbari
- 23. Ruppert
- 24. Jurkowski
- 25. Lal
- 26. Rusconi
- 27. Cestèle
- 28. Terragni
- 29. Coombs
- 30. Reid
- 31. Striano
- 32. Caglayan
- 33. Siren
- 34. Everett
- 35. Møller
- 36. Hjalgrim
- 37. Muhle
- 38. Helbig
- 39. Kunz
- 40. Weber
- 41. Weckhuysen
- 42. De Jonghe
- 43. Sisodiya
- 44. Nabbout
- 45. Franceschetti
- 46. Coppola
- 47. Vari
- 48. Kasteleijn-Nolst Trenité
- 49. Baykan
- 50. Ozbek
- 51. Bebek
- 52. Klein
- 53. Rosenow
- 54. Nguyen
- 55. Dubeau
- 56. Carmant
- 57. Lortie
- 58. Desbiens
- 59. Clément
- 60. Cieuta-Walti
- 61. Sills
- 62. Auce
- 63. Francis
- 64. Johnson
- 65. Marson
- 66. Berghuis
- 67. Sander
- 68. Avbersek
- 69. Department of Genetics, UMC Utrecht, Utrecht, Netherlands
- 70. Cavalleri
- 71. Delanty
- 72. Depondt
- 73. Krenn
- 74. Zimprich
- 75. Peter
- 76. Nikanorova
- 77. Kraaij
- 78. van Rooij
- 79. Balling
- 80. Ikran
- 81. Uitterlinden
- 82. Avanzini
- 83. Schorge
- 84. Petrou
- 85. Mantegazza
- 86. LeGuern
- 87. Serratosa
- 88. Koeleman
- 89. Palotie
- 90. Lehesjoki
- 91. Nothnagel
- 92. Nürnberg
- 93. Maljevic
- 94. Zara
- 95. Cossette
- 96. Krause
- 97. Lerche
Description
Functionally relevant variants in genes encoding GABAA receptor subunits constitute a significant risk factor for genetic generalised epilepsy. Examination of the role of specific gene groups and pathways can disentangle the complex genetic architecture of genetic generalised epilepsy.
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Additional details
Funding
- European Commission
- EPIPGX - Epilepsy Pharmacogenomics: delivering biomarkers for clinical use 279062
- European Commission
- PGXOME - A pharmacogenomic exploration of adverse drug reactions in epilepsy 751761
- Science Foundation Ireland
- Genetic biomarkers for epilepsy predisposition and treatment 13/CDA/2223