Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
| Main Authors: | May, Patrick, Simon, Merle, Dheeraj, Julian, Stefan, Felicitas, Pamela, Caroline, Micheline, Cristina, Julia, Carolien, Mohamad, Anne, Michele, Rosa, Stéphanie, Carla, Holger, Janine, Kamel, Ann-Kathrin, Wiktor, Dennis, Raffaella, Sandrine, Benedetta, Ian, Christopher, Pasquale, Hande, Aulie, Kate, Rikke, Helle, Hiltrud, Ingo, Wolfram, Yvonne, Sarah, Peter, Sanjay, Rima, Silvana, Antonietta, Maria, Dorothée, Betul, Ugur, Nerses, Karl, Felix, Dang, François, Lionel, Richard, Jean-François, Cécile, Graeme, Pauls, Ben, Michael, Anthony, Bianca, Josemir, Andreja, McCormack, Mark, Gianpiero, Norman, Chantal, Martin, Fritz, Marina, Robert, Jeroen, Rudi, M Arfan, André, Giuliano, Stephanie, Steven, Massimo, Thomas, Eric, Jose, Bobby, Aarno, Anna-Elina, Snezana, Federico, Patrick, Roland |
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| Format: | Article |
| Bahasa: | eng |
| Terbitan: |
, 2018
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| Online Access: |
https://zenodo.org/record/1406912 |
Daftar Isi:
- 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.