The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abstract
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is the first, and to date only, idiopathic epilepsy for which a specific mutation has been found. A missense mutation in the critical M2 domain of the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been recently identified in one large Australian pedigree. Here we describe a novel mutation in the M2 domain of the CHRNA4 gene in a Norwegian family. Three nucleotides (GCT) were inserted at nucleotide position 776 into the coding region for the C-terminal end of the M2 domain. Physiological investigations of the receptor reconstituted with the mutated CHRNA4 subunit reveal that this insertion does not prevent the receptor function but increases its apparent affinity for ACh. In addition, this mutant receptor shows a significantly lower calcium permeability that, at the cellular level, may correspond to a loss of function. Comparison of the two mutations identified so far in families with ADNFLE illustrates that different mutations can result in similar phenotypes.
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Isolation of a novel gene underlying batten disease, CLN3
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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
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Mutations in the channel domain alter desensitization of a neuronal nicotinic receptor
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Self-citationAutosomal dominant nocturnal frontal lobe epilepsy: A distinctive clinical disorder
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Cited by
Nicotinic Acetylcholine Receptors and Nicotinic Cholinergic Mechanisms of the Central Nervous System
Dani, J. A., & Bertrand, D. (2007) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.47.120505.105214 · Cited by 1,197
Self-citationA Potassium Channel Mutation in Neonatal Human Epilepsy
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Self-citationNeuronal nicotinic receptors: from structure to pathology
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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
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Metadata
- Authors
- Steinlein, O. K., Magnusson, A., Stoodt, J., Bertrand, S., Weiland, S., Berkovic, S. F., Nakken, K. O., Propping, P., & Bertrand, D.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-06-01
- Volume
- 6
- Issue
- 6
- Pages
- 943-947
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2157955296
- Cited by
- 357
- References
- 25
- FWCI
- 31.82
- Type
- journal article
- Language
- en
- Open access
- closed
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- Steinlein, O. K., Magnusson, A., Stoodt, J., Bertrand, S., Weiland, S., Berkovic, S. F., Nakken, K. O., Propping, P., & Bertrand, D. (1997). An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Human Molecular Genetics. https://doi.org/10.1093/hmg/6.6.943
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