The DOI matches its Crossref record; 93 of the 93 references it cites were found in a registry or an index.
Sodium channel SCN1A and epilepsy: Mutations and mechanisms
Open accessAbstract
Summary: Mutations in a number of genes encoding voltage‐gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, severe myoclonic epilepsy of infancy). Most of these mutations are in the SCN1A gene, and all are dominantly inherited. Most of the mutations that cause DS result in loss of function, whereas all of the known mutations that cause GEFS+ are missense, presumably altering channel activity. Family members with the same GEFS+ mutation often display a wide range of seizure types and severities, and at least part of this variability likely results from variation in other genes. Many different biophysical effects of SCN1A‐GEFS+ mutations have been observed in heterologous expression systems, consistent with both gain and loss of channel activity. However, results from mouse models suggest that the primary effect of both GEFS+ and DS mutations is to decrease the activity of GABAergic inhibitory neurons. Decreased activity of the inhibitory circuitry is thus likely to be a major factor contributing to seizure generation in patients with GEFS+ and DS, and may be a general consequence of SCN1A mutations.
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Cites
From Ionic Currents to Molecular Mechanisms
Catterall, W. A. (2000) · Neuron · doi:10.1016/s0896-6273(00)81133-2 · Cited by 2,118
Incidence of Epilepsy and Unprovoked Seizures in Rochester, Minnesota: 1935–1984
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Nomenclature of Voltage-Gated Sodium Channels
Goldin, A. L., Barchi, R. L., Caldwell, J. H., Hofmann, F., Howe, J. R., Hunter, J. C., Kallen, R. G., Mandel, G., Meisler, M. H., Netter, Y. B., et al. (2000) · Neuron · doi:10.1016/s0896-6273(00)00116-1 · Cited by 1,481
Self-citationEslava‐Cobos, J., & Naririo, D. (1989) · Epilepsia · doi:10.1111/j.1528-1157.1989.tb05291.x · Cited by 1,292
Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., Spain, W. J., McKnight, G. S., Scheuer, T., & Catterall, W. A. (2006) · Nature Neuroscience · doi:10.1038/nn1754 · Cited by 1,173
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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-citationOgiwara, 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
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Wallace, R. H., Marini, C., Petrou, S., Harkin, L. A., Bowser, D. N., Panchal, R. G., Williams, D. A., Sutherland, G. R., Mulley, J. C., Scheffer, I. E., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-49 · Cited by 781
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Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction
Goldberg, E. M., & Coulter, D. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3482 · Cited by 542
Migraine pathophysiology: lessons from mouse models and human genetics
Ferrari, M. D., Klever, R. R., Terwindt, G. M., Ayata, C., & van den Maagdenberg, A. M. J. M. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70220-0 · Cited by 387
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
Oyrer, J., Maljevic, S., Scheffer, I. E., Berkovic, S. F., Petrou, S., & Reid, C. A. (2018) · Pharmacological Reviews · doi:10.1124/pr.117.014456 · Cited by 315
Incidence of Dravet Syndrome in a US Population
Wu, Y. W., Sullivan, J., McDaniel, S. S., Meisler, M. H., Walsh, E. M., Li, S. X., & Kuzniewicz, M. W. (2015) · Pediatrics · doi:10.1542/peds.2015-1807 · Cited by 248
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Guerrini, R., Conti, V., Mantegazza, M., Balestrini, S., Galanopoulou, A. S., & Benfenati, F. (2023) · Physiological Reviews · doi:10.1152/physrev.00063.2021 · Cited by 196
Metadata
- Authors
- Escayg, A., & Goldin, A. L.
- Venue
- Epilepsia
- Publisher
- Wiley
- Published
- 2010-09
- Volume
- 51
- Issue
- 9
- Pages
- 1650-1658
- ISSN
- 0013-9580 (ISSN-L)
- 1528-1167
- OpenAlex
- W1580632486
- Cited by
- 398
- References
- 93
- FWCI
- 13.16
- Type
- journal article
- Language
- en
- Open access
- green
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