The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons
Abstract
Erythromelalgia is an autosomal dominant disorder characterized by burning pain in response to warm stimuli or moderate exercise. We describe a novel mutation in a family with erythromelalgia in SCN9A, the gene that encodes the Na(v)1.7 sodium channel. Na(v)1.7 produces threshold currents and is selectively expressed within sensory neurons including nociceptors. We demonstrate that this mutation, which produces a hyperpolarizing shift in activation and a depolarizing shift in steady-state inactivation, lowers thresholds for single action potentials and high frequency firing in dorsal root ganglion neurons. Erythromelalgia is the first inherited pain disorder in which it is possible to link a mutation with an abnormality in ion channel function and with altered firing of pain signalling neurons.
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Cites
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Akopian, A. N., Sivilotti, L., & Wood, J. N. (1996) · Nature · doi:10.1038/379257a0 · Cited by 1,103
A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation.
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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
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Contribution of Nav1.8 Sodium Channels to Action Potential Electrogenesis in DRG Neurons
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Self-citationToledo-Aral, J. J., Moss, B. L., He, Z.-J., Koszowski, A. G., Whisenand, T., Levinson, S. R., Wolf, J. J., Silos-Santiago, I., Halegoua, S., & Mandel, G. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.4.1527 · Cited by 525
Blair, N. T., & Bean, B. P. (2002) · The Journal of Neuroscience · doi:10.1523/jneurosci.22-23-10277.2002 · Cited by 426
Electrophysiological Properties of Mutant Na v 1.7 Sodium Channels in a Painful Inherited Neuropathy
Cummins, T. R., Dib-Hajj, S. D., & Waxman, S. G. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.2695-04.2004 · Cited by 394
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Self-citationMolecular Basis of an Inherited Epilepsy
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Cited by
Allodynia and hyperalgesia in neuropathic pain: clinical manifestations and mechanisms
Jensen, T. S., & Finnerup, N. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70102-4 · Cited by 976
The Role of Voltage-Gated Sodium Channels in Pain Signaling
Bennett, D. L., Clark, A. J., Huang, J., Waxman, S. G., & Dib-Hajj, S. D. (2019) · Physiological Reviews · doi:10.1152/physrev.00052.2017 · Cited by 730
Self-citationThe roles of sodium channels in nociception: Implications for mechanisms of pain
Cummins, T. R., Sheets, P. L., & Waxman, S. G. (2007) · Pain · doi:10.1016/j.pain.2007.07.026 · Cited by 485
Self-citationNeuropathic Pain: Central vs. Peripheral Mechanisms
Meacham, K., Shepherd, A., Mohapatra, D. P., & Haroutounian, S. (2017) · Current Pain and Headache Reports · doi:10.1007/s11916-017-0629-5 · Cited by 459
Sodium Channels and Mechanisms of Neuropathic Pain
Devor, M. (2006) · The Journal of Pain · doi:10.1016/j.jpain.2005.09.006 · Cited by 401
Metadata
- Authors
- Dib-Hajj, S. D., Rush, A. M., Cummins, T. R., Hisama, F. M., Novella, S., Tyrrell, L., Marshall, L., & Waxman, S. G.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-06-15
- Volume
- 128
- Issue
- 8
- Pages
- 1847-1854
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2156289861
- Cited by
- 490
- References
- 17
- FWCI
- 11.06
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. https://app.cochat.ai/papers/10.1093/brain/awh514
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- Dib-Hajj, S. D., Rush, A. M., Cummins, T. R., Hisama, F. M., Novella, S., Tyrrell, L., Marshall, L., & Waxman, S. G. (2005). Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. https://doi.org/10.1093/brain/awh514
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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