The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene
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Citations
Cites
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Singh, N. A., Charlier, C., Stauffer, D., DuPont, B. R., Leach, R. J., Melis, R., Ronen, G. M., Bjerre, I., Quattlebaum, T., Murphy, J. V., et al. (1998) · Nature Genetics · doi:10.1038/ng0198-25 · Cited by 1,199
Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., et al. (1998) · Nature Genetics · doi:10.1038/1252 · Cited by 996
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics · doi:10.1038/74159 · Cited by 996
Self-citationStructure and subunit composition of GABAA receptors
Sieghart, W., Fuchs, K., Tretter, V, Ebert, V, Jechlinger, M., Höger, H., & Adamiker, D. (1999) · Neurochemistry International · doi:10.1016/s0197-0186(99)00045-5 · Cited by 306
Cited by
Molecular Structure and Physiological Function of Chloride Channels
Jentsch, T. J., Stein, V., Weinreich, F., & Zdebik, A. A. (2002) · Physiological Reviews · doi:10.1152/physrev.00029.2001 · Cited by 1,256
Guerrini, R. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68182-8 · Cited by 848
Crystal structure of a human GABAA receptor
Miller, P. S., & Aricescu, A. R. (2014) · Nature · doi:10.1038/nature13293 · Cited by 710
GABAA receptor trafficking and its role in the dynamic modulation of neuronal inhibition
Jacob, T. C., Moss, S. J., & Jurd, R. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2370 · Cited by 695
Sodium channel SCN1A and epilepsy: Mutations and mechanisms
Escayg, A., & Goldin, A. L. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02640.x · Cited by 398
Metadata
- Authors
- Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.-F., Baulac, M., Brice, A., Bruzzone, R., & LeGuern, E.
- Venue
- Nature Genetics
- Published
- 2001-05
- Volume
- 28
- Issue
- 1
- Pages
- 46-48
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2069543630
- Cited by
- 766
- References
- 4
- FWCI
- 36.89
- Type
- journal article
- Language
- en
- Open access
- closed
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. https://app.cochat.ai/papers/10.1038/ng0501-46
- The paper
- Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.-F., Baulac, M., Brice, A., Bruzzone, R., & LeGuern, E. (2001). First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nature Genetics. https://doi.org/10.1038/ng0501-46
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
