The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
Open accessAbstract
Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p13 have recently been shown to associate with EA1. A Scottish family with EA1 harbouring a novel mutation in this gene is reported. Of the five affected individuals over three generations, two had partial epilepsy in addition to EA1. The detailed clinical, electrophysiological and molecular genetic findings are presented. The heterozygous point mutation is located at nucleotide position 677 and results in a radical amino acid substitution at a highly conserved position in the second transmembrane domain of the potassium channel. Functional studies indicated that mutant subunits exhibited a dominant negative effect on potassium channel function and would be predicted to impair neuronal repolarization. Potassium channels determine the excitability of neurons and blocking drugs are proconvulsant. A critical review of previously reported EA1 families shows an over-representation of epilepsy in family members with EA1 compared with unaffected members. These observations indicate that this mutation is pathogenic and suggest that the epilepsy in EA1 may be caused by the dysfunctional potassium channel. It is possible that such dysfunction may be relevant to other epilepsies in man.
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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
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A Potassium Channel Mutation in Neonatal Human Epilepsy
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Deletion of the KV1.1 Potassium Channel Causes Epilepsy in Mice
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Voltage-gated potassium channels as therapeutic targets
Wulff, H., Castle, N. A., & Pardo, L. A. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2983 · Cited by 799
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., Stephan, D. A., & Morton, D. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052773 · Cited by 630
Molecular Targets for Antiepileptic Drug Development
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Metadata
- Authors
- Zuberi, S. M.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-05-01
- Volume
- 122
- Issue
- 5
- Pages
- 817-825
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2128988164
- Cited by
- 366
- References
- 19
- FWCI
- 6.09
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. https://app.cochat.ai/papers/10.1093/brain/122.5.817
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- Zuberi, S. M. (1999). A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain. https://doi.org/10.1093/brain/122.5.817
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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.
