The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
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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Citations
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
Cited by
Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypes
Rudolph, U., & Knoflach, F. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3502 · Cited by 733
Cryo-EM structure of the human α1β3γ2 GABAA receptor in a lipid bilayer
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
Fractalkine/CX 3 CL 1 modulates GABAA currents in human temporal lobe epilepsy
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
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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- Macdonald, R. L., Kang, J.-Q., & Gallagher, M. J. (2010). Mutations in GABAAreceptor subunits associated with genetic epilepsies. The Journal of Physiology. https://doi.org/10.1113/jphysiol.2010.186999
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