The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
Open accessAbstract
Ion channel mutations are an important cause of rare Mendelian disorders affecting brain, heart, and other tissues. We performed parallel exome sequencing of 237 channel genes in a well characterized human sample, comparing variant profiles of unaffected individuals to those with the most common neuronal excitability disorder, sporadic idiopathic epilepsy. Rare missense variation in known Mendelian disease genes is prevalent in both groups at similar complexity, revealing that even deleterious ion channel mutations confer uncertain risk to an individual depending on the other variants with which they are combined. Our findings indicate that variant discovery via large scale sequencing efforts is only a first step in illuminating the complex allelic architecture underlying personal disease risk. We propose that in silico modeling of channel variation in realistic cell and network models will be crucial to future strategies assessing mutation profile pathogenicity and drug response in individuals with a broad spectrum of excitability disorders.
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Cites
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
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Molecular anatomy of a trafficking organelle
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Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
The complete genome of an individual by massively parallel DNA sequencing
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Self-citationDe 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
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Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · cited 1×
“Emerging reports of allelic variability within known disease genes in healthy individuals raise concern that ‘genetic noise’ may confound personal disease prediction, which will fail in the absence of a ‘healthy’ reference genome (Lupski et al., 2010; Ng et al., 2010).”
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Cited by
De novo mutations in epileptic encephalopathies
Epi4K Consortium, & Epilepsy Phenome/Genome Project (2013) · Nature · doi:10.1038/nature12439 · Cited by 1,514
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
Lemke, J. R., Riesch, E., Scheurenbrand, T., Schubach, M., Wilhelm, C., Steiner, I., Hansen, J., Courage, C., Gallati, S., Bürki, S., et al. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03516.x · Cited by 332
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
(2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70171-1 · Cited by 293
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
Sodium channels and the neurobiology of epilepsy
Oliva, M., Berkovic, S. F., & Petrou, S. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03631.x · Cited by 124
Metadata
- Authors
- Klassen, T., Davis, C., Goldman, A., Burgess, D., Chen, T., Wheeler, D., McPherson, J., Bourquin, T., Lewis, L., Villasana, D., Morgan, M., Muzny, D., Gibbs, R., & Noebels, J.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2011-06
- Volume
- 145
- Issue
- 7
- Pages
- 1036-1048
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2007413374
- Cited by
- 300
- References
- 14
- FWCI
- 23.20
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Klassen, T., Davis, C., Goldman, A., Burgess, D., Chen, T., Wheeler, D., McPherson, J., Bourquin, T., Lewis, L., Villasana, D., Morgan, M., Muzny, D., Gibbs, R., & Noebels, J. (2011). Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy. Cell. https://doi.org/10.1016/j.cell.2011.05.025
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