The DOI matches its Crossref record; 87 of the 87 references it cites were found in a registry or an index.
Sodium channel mutations in epilepsy and other neurological disorders
Open accessAbstract
Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years ago, more than 150 mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent sodium current are also common. Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well.
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Cites
X-ray structure of a voltage-dependent K+ channel
Jiang, Y., Lee, A., Chen, J., Ruta, V., Cadene, M., Chait, B. T., & MacKinnon, R. (2003) · Nature · doi:10.1038/nature01580 · Cited by 1,797
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R., Napolitano, C., Schwartz, P. J., Joseph, R. M., Condouris, K., et al. (2004) · Cell · doi:10.1016/j.cell.2004.09.011 · Cited by 1,586
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., & De Jonghe, P. (2001) · The American Journal of Human Genetics · doi:10.1086/320609 · Cited by 1,292
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-citationThe tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways
Akopian, A. N., Souslova, V., England, S., Okuse, K., Ogata, N., Ure, J., Smith, A., Kerr, B. J., McMahon, S. B., Boyce, S., et al. (1999) · Nature Neuroscience · doi:10.1038/9195 · Cited by 816
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.012153 · Cited by 801
The principle of gating charge movement in a voltage-dependent K+ channel
Jiang, Y., Ruta, V., Chen, J., Lee, A., & MacKinnon, R. (2003) · Nature · doi:10.1038/nature01581 · Cited by 781
Scheffer, I. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 755
Resurgence of sodium channel research
Goldin, A. L. (2001) · Annual Review of Physiology · doi:10.1146/annurev.physiol.63.1.871 · Cited by 688
Cited by
Verret, L., Mann, E. O., Hang, G. B., Barth, A. M. I., Cobos, I., Ho, K., Devidze, N., Masliah, E., Kreitzer, A. C., Mody, I., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.046 · Cited by 1,216
Ogiwara, I., Miyamoto, H., Morita, N., Atapour, N., Mazaki, E., Inoue, I., Takeuchi, T., Itohara, S., Yanagawa, Y., Obata, K., et al. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.5270-06.2007 · Cited by 879
Fertleman, C. R., Baker, M. D., Parker, K. A., Moffatt, S., Elmslie, F. V., Abrahamsen, B., Ostman, J., Klugbauer, N., Wood, J. N., Gardiner, R. M., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.10.006 · Cited by 756
Vassar, R., Kovacs, D. M., Yan, R., & Wong, P. C. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.3657-09.2009 · Cited by 577
Epileptogenesis in the immature brain: emerging mechanisms
Rakhade, S. N., & Jensen, F. E. (2009) · Nature Reviews Neurology · doi:10.1038/nrneurol.2009.80 · Cited by 552
Metadata
- Authors
- Meisler, M. H.
- Venue
- Journal of Clinical Investigation
- Published
- 2005-08-01
- Volume
- 115
- Issue
- 8
- Pages
- 2010-2017
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2065476766
- Cited by
- 511
- References
- 87
- FWCI
- 11.52
- Type
- journal article
- Language
- en
- Open access
- bronze
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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.
