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Mutations in GABAAreceptor subunits associated with genetic epilepsies
Open accessAbstract
Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). These mutations are found in both translated and untranslated gene regions and have been shown to affect the GABAA receptors by altering receptor function and/or by impairing receptor biogenesis by multiple mechanisms including reducing subunit mRNA transcription or stability, impairing subunit folding, stability, or oligomerization and by inhibiting receptor trafficking.
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Cites
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
Maquat, L. E. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1310 · Cited by 1,214
Channelopathies as a genetic cause of epilepsy
Mulley, J. C., Scheffer, I. E., Petrou, S., & Berkovic, S. F. (2003) · Current Opinion in Neurology · doi:10.1097/00019052-200304000-00009 · Cited by 214
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Laverty, D., Desai, R., Uchański, T., Masiulis, S., Stec, W. J., Malinauskas, T., Zivanov, J., Pardon, E., Steyaert, J., Miller, K. W., et al. (2019) · Nature · doi:10.1038/s41586-018-0833-4 · Cited by 316
Lee, V., & Maguire, J. (2014) · Frontiers in Neural Circuits · doi:10.3389/fncir.2014.00003 · Cited by 228
Towards a Better Understanding of GABAergic Remodeling in Alzheimer’s Disease
Govindpani, K., Calvo-Flores Guzmán, B., Vinnakota, C., Waldvogel, H., Faull, R., & Kwakowsky, A. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18081813 · Cited by 208
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Roseti, C., Fucile, S., Lauro, C., Martinello, K., Bertollini, C., Esposito, V., Mascia, A., Catalano, M., Aronica, E., Limatola, C., et al. (2013) · Epilepsia · doi:10.1111/epi.12354 · Cited by 92
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy
Papandreou, A., McTague, A., Trump, N., Ambegaonkar, G., Ngoh, A., Meyer, E., Scott, R. H., & Kurian, M. A. (2016) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12976 · Cited by 79
Realising the therapeutic potential of neuroactive steroid modulators of the GABAA receptor
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Orenstein, N., Goldberg-Stern, H., Straussberg, R., Bazak, L., Weisz Hubshman, M., Kropach, N., Gilad, O., Scheuerman, O., Dory, Y., Kraus, D., et al. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2017.12.017 · Cited by 33
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Metadata
- Authors
- Macdonald, R. L., Kang, J.-Q., & Gallagher, M. J.
- Venue
- The Journal of Physiology
- Publisher
- Wiley
- Published
- 2010-05-28
- Volume
- 588
- Issue
- 11
- Pages
- 1861-1869
- ISSN
- 0022-3751 (ISSN-L)
- OpenAlex
- W2144183707
- Cited by
- 262
- References
- 2
- FWCI
- 13.56
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
