The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
Open accessAbstract
SCN1B, the gene encoding the sodium channel beta 1 subunit, was the first gene identified for generalized epilepsy with febrile seizures plus (GEFS+). Only three families have been published with SCN1B mutations. Here, we present four new families with SCN1B mutations and characterize the associated phenotypes. Analysis of SCN1B was performed on 402 individuals with various epilepsy syndromes. Four probands with missense mutations were identified. Detailed electroclinical phenotyping was performed on all available affected family members including quantitative MR imaging in those with temporal lobe epilepsy (TLE). Two new families with the original C121W SCN1B mutation were identified; novel mutations R85C and R85H were each found in one family. The following phenotypes occurred in the six families with SCN1B missense mutations: 22 febrile seizures, 20 febrile seizures plus, five TLE, three other GEFS+ phenotypes, two unclassified and ten unaffected individuals. All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. We confirm the role of SCN1B in GEFS+ and show that the GEFS+ spectrum may include TLE alone. TLE with an SCN1B mutation is not a contraindication to epilepsy surgery.
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Cites
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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
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Anatomic basis of amygdaloid and hippocampal volume measurement by magnetic resonance imaging
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Etiology and Pathogenesis of Temporal Lobe Epilepsy
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Seizure Outcome after Temporal Lobectomy: Current Research Practice and Findings
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Self-citationPhillips, H. A., Favre, I., Kirkpatrick, M., Zuberi, S. M., Goudie, D., Heron, S. E., Scheffer, I. E., Sutherland, G. R., Berkovic, S. F., Bertrand, D., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316946 · Cited by 321
Self-citationLocalization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
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Self-citationSingh, N. A. (2003) · Brain · doi:10.1093/brain/awg286 · Cited by 310
Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy
Berkovic, S. F., Heron, S. E., Giordano, L., Marini, C., Guerrini, R., Kaplan, R. E., Gambardella, A., Steinlein, O. K., Grinton, B. E., Dean, J. T., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20029 · Cited by 286
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Cited by
Zuberi, S. M., Wirrell, E., Yozawitz, E., Wilmshurst, J. M., Specchio, N., Riney, K., Pressler, R., Auvin, S., Samia, P., Hirsch, E., et al. (2022) · Epilepsia · doi:10.1111/epi.17239 · Cited by 934
Self-citationVassar, R., Kovacs, D. M., Yan, R., & Wong, P. C. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.3657-09.2009 · Cited by 577
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
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
Self-citationGenetic epilepsy with febrile seizures plus: Refining the spectrum
Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004384 · Cited by 139
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Metadata
- Authors
- Scheffer, I. E., Harkin, L. A., Grinton, B. E., Dibbens, L. M., Turner, S. J., Zielinski, M. A., Xu, R., Jackson, G., Adams, J., Connellan, M., Petrou, S., Wellard, R. M., Briellmann, R. S., Wallace, R. H., Mulley, J. C., & Berkovic, S. F.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-11-21
- Volume
- 130
- Issue
- 1
- Pages
- 100-109
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W1587507341
- Cited by
- 273
- References
- 22
- FWCI
- 12.07
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Scheffer, I. E., Harkin, L. A., Grinton, B. E., Dibbens, L. M., Turner, S. J., Zielinski, M. A., Xu, R., Jackson, G., Adams, J., Connellan, M., Petrou, S., Wellard, R. M., Briellmann, R. S., Wallace, R. H., Mulley, J. C., & Berkovic, S. F. (2006). Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain. https://doi.org/10.1093/brain/awl272
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