A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature Genetics

Volumn 11, Issue 2, 1995, Pages 201-203

  Steinlein, Ortrud K ^a   Mulley, John C ^b   Propping, Peter ^a   Wallace, Robyn H ^b,c   Phillips, Hilary A ^b   Sutherland, Grant R ^b,c   Scheffer, Ingrid E ^d,e   Berkovic, Samuel F ^d,e  

^a UNIVERSITY OF BONN   (Germany)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; NICOTINIC RECEPTOR; RECEPTOR SUBUNIT;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; FAMILY STUDY; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE MUTATION; HUMAN; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CASE REPORT; CHICKENS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; COMPARATIVE STUDY; DNA PRIMERS; EPILEPSY, FRONTAL LOBE; FEMALE; FRONTAL LOBE; GENES, DOMINANT; HUMAN; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RATS; RECEPTORS, NICOTINIC; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T;

EID: 0028980028     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1095-201     Document Type: Article

References (33)

1. Hauser, W.A., Annegers, J.F. & Kurland, L.T. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935 to 1984. Epilepsia 34, 453-468 (1993).
2. Commission on classification and terminology of the international league against epilepsy. Epilepsia 30, 389-399 (1989).
3. Shoffner, J.M. et al. Myoclonic epilepsy and ragged-red fibers (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61, 931-937 (1990).
4. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidolusian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
5. Greenberg, D.A. et al. Juvenile myoclonus epilepsy (JME) linked to the BF and HLA loci on human chromosome 6. Am. J. med. Genet. 31, 185-192 (1988).
6. Leppert, M. et al. Benign familial convulsions linked to genetic markers on chromosome 20. Nature 337, 647-648 (1989).
7. Lehesjoki, A.E. et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc. natn. Acad. Sci. U.S.A. 88, 3696-3699 (1991).
8. Phillips, H.A. et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nature Genet. 10, 117-118 (1995).
9. Ottman, R. et al. Localization of a gene for partial epilepsy to chromosome 10q. Nature Genet. 10, 56-60 (1995).
10. Scheffer, I.E. et al. Autosomal dominant frontal lobe disorder misdiagnosed as sleep disorder. Lancet 343, 515-517 (1994).
11. Scheffer, I.E. et al. Autosomal dominant nocturnal frontal lobe epilepsy: a distinct clinical disorder. Brain 118, 61-73 (1995).
12. Steinlein, O.K. et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. Genomics 22, 493-95 (1994).
13. Wevers, A. et al. Cellular distribution of nicotinic acetylcholine receptor subunit mRNAs in the human cerebral cortex as revealed by non-isotopic in situ hybridization. Brain Res. molec. Brain Res. 25, 122-128 (1994).
14. Luetje, C.W., Piattoni, M. & Patrick, J. Mapping of ligand binding sites of neuronal nicotinic acetylcholine receptors using chimeric a subunits.Molec. Pharmacol. 444, 657-666 (1993).
15. Hultman, T., Bergh, S., Moka, T. & Uhlen, M. Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA. Biotechniques 10, 84-93 (1991).
16. Monteggia, L. et al. Cloning and transient expression of genes encoding the human α4 and β2 neuronal nicotinic acetylcholine receptor (nAChR) subunits. Gene 155, 189-193 (1995).
17. Noda, M. et al. Primary structure of a-subunit precursor of Torpedo californica acetylcholine receptor deduced from cDNA sequence. Nature 299, 793-823 (1982).
18. Le Novere, N. & Changeux, J.P. Molecular evolution of the nicotinic acetylcholine receptor: an example of multigene family in excitable cells.J. molec. Evol. 40, 155-172 (1995).
19. Mulley, J.C., Gedeon, A.K., Wilson, S.E. & Haan, E.A. Use of linkage data obtained in single families: prenatal diagnosis of a new x- linked mental retardation syndrome. Am. J. med. Genet. 43, 415-419 (1992).
20. Schoepfer, R. et al. cDNA clones coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor. Neuron 1, 241-248 (1988).
21. Whiting, P.J. et al. Expression of nicotinic acetylcholine receptor subtypes in brain and retina. Brain Res. molec. Brain Res. 10, 61-70 (1991).
22. Sargent, P.B. The diversity of neuronal nicotinic acetylcholine receptors.A. Rev. Neurosci. 16, 403-443 (1993).
23. Devillers-Thiery, A. et al. Functional architecture of the nicotinic acetylcholine receptor: a prototype of ligand-gated ion channels. J. Membr. Biol. 136, 97-112 (1993).
24. Unwin, N. Nicotinic acetylcholine receptor at 9 A resolution. J. molec. Biol. 229, 1101-1124 (1993).
25. Goto, K. The on-off mechanisms of the nicotinic acetylcholine receptor ion channel are performed by thermodynamic forces. J. theor. Biol. 170, 267-272 (1994).
26. Unwin, N. Acetylcholine receptor channel imaged in the open state. Nature 373, 37-43 (1995).
27. Steriade, M., McCormick, D.A. & Sejnowski, T.J. Thalamocortical oscillations in the sleeping and aroused brain. Science 262, 679-685 (1993).
28. Beck, C. et al. A nonsense mutation in the a4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1). Neurobiol. Disease 1, 95-99 (1994).
29. Eng, C.M., Kozak, C.A., Beaudet, A.L. & Zoghbi, H.Y. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics 9, 278-282 (1991).
30. Anand, R. & Lindstrom, J. Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in human. Genomics 13, 962-967 (1992).
31. Berkovic, S.F., Howell, R.A. & Hopper, J.L. Familial temporal lobe epilepsy: a new syndrome with adolescent/adult onset and a benign course. In Epileptic seizures and syndromes, (ed. Wolf, P.) 259-265 (John Libbey, London, 1994).
32. Scheffer, I.E., Hopkins, I.J., Harvey, A.S. & Berkovic, S.F. New autosomal dominant partial epilepsy syndrome. Ped. Neurol. 11, 95 (1994).
33. Scheffer, I.E. et al. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Epilepsia 35, 150 (1994).