De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
GABAA receptors are important regulators of neuronal inhibition. Butler et al. identify de novo variants in GABRA2 and GABRA5.
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| Hauptverfasser: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
June 28, 2018
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| In: |
Brain
Year: 2018, Jahrgang: 141, Heft: 8, Pages: 2392-2405 |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awy171 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awy171 Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/brain/article/141/8/2392/5046342 |
| Verfasserangaben: | Kameryn M. Butler, Olivia A. Moody, Elisabeth Schuler, Jason Coryell, John J. Alexander, Andrew Jenkins and Andrew Escayg |
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