Abstract
Recurrent seizures, commonly known as epilepsies, occur in 1.7% of the general population by age 401. The factors that initiate or underlie seizures are not well understood, but trauma, infectious disease and genetics have been implicated. An understanding of the molecular basis of seizures would shed light on the basic mechanisms of neuronal homeostasis and allow new therapeutic strategies to be explored. Here, we report the mapping of an epilepsy gene to a specific chromosomal region, on the basis of cosegregation of two closely-linked DNA markers with a form of epilepsy known as benign familial neonatal convulsions (BFNC2, £12120 in ref. 3). The linked markers confirm the genetic basis and autosomal dominant inheritance of this trait, and localize the gene causing BFNC in this family to the long arm of chromosome 20. This regional placement is the first step towards the isolation of a gene involved in neuronal activity in the human brain.
Similar content being viewed by others
References
Annegers, J. F., Hauser, W. A. & Anderson, V. E. in Genetic Basis of the Epilepsies (eds Anderson, V. E., Hauser, W. A., Penry, J. K. & Sing, C. F.) 151–159 (Raven, New York, 1982).
Bjerre, I. & Corelius, E. Acta paediat. scand. 57, 557–561 (1968).
McKusick, V. A. Mendelian Inheritance in Man 8th edn. 172–173 (Johns Hopkins University Press, Baltimore, 1988).
Rett, A. & Teubel, R. Wiener Klinische Wochenschrift 76, 609–613 (1964).
Zonana, J., Silvey, K. & Strimling, B. Am. J. med. Genet. 18, 455–459 (1984).
Gross, S., Schuber, W. & Silka, M. J. Pediat. 96, 952 (1980).
Dobrescu, O. & Larbrisseau, A. Can. J. neurol. Sci. 9, 345–347 (1982).
Takebe, Y., Chiva, C. & Kimura, S. Brain Dev. 5, 319–322 (1983).
Plouin, P. in Epileptic Syndromes in Infancy, Childhood and Adolescence (ed. Roger, J., Dravet, C., Bureau, M., Dreifuss, F. E. & Wolf, P.) 2–11 (John Libbey Eurotext, London, 1985).
Crispen, C. & Kelly, T. Iowa Med. 75, 397–401 (1985).
Cronin, C. & Cosgrove, J. Irish Med. J. 79, 325–326 (1986).
Shavell, M. I., Sinclair, D. B. & Metrakos, K. Pediat. Neurol. 2, 272–275 (1986).
Cunniff, C. Am. J. med. Genet. 30, 963–966 (1988).
Quattlebaum, T. J. Pediat. 95, 257–259 (1979).
Lathrop, M., Lalouel, J.-M., Julier, C. & Ott, J. Am. J. hum. Genet. 37, 482–498 (1985).
Giacoia, G. P. Southern Med. J. 75, 629–630.
Pettit, R. E. & Fenichel, G. M. in Archs Neurol. 37, 47–48.
Nakamura, Y. et al. Nucleic Acids Res. 16, 5222 (1988).
Myers, R. et al. Nucleic Acids Res. 16, 9883 (1988).
White, R. et al. Nature 313, 101–105 (1985).
Kidd, K. K. & Ott, J. Cytogenet. Cell Genet. 37, 510 (1984).
Conneally, P. et al. Cytogenet. Cell Genet. 40, 356–359 (1985).
Barker, D., Schafer, M. & White, R. Cell 36, 131–138 (1984).
de Martinville, B., Schafer, M., White, R. & Francke, U. Cytogenet. Cell Genet. 37, 531 (1984).
Goodfellow, P. J. et al. Cytogenet. Cell Genet. 44, 112–117 (1987).
Sparkes, R. S., Kaufman, D., Heinzmann, C., Tobin, A. J. & Mohandas, T. Cytogenet. Cell Genet. 46, 696 (1987).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Leppert, M., Anderson, V., Quattlebaum, T. et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337, 647–648 (1989). https://doi.org/10.1038/337647a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/337647a0
- Springer Nature Limited
This article is cited by
-
Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes
Scientific Reports (2020)
-
The Genetics of Common Epilepsy Disorders: Lessons Learned from the Channelopathy Era
Current Genetic Medicine Reports (2014)
-
Benigne familiäre neonatale/infantile Anfälle
Zeitschrift für Epileptologie (2013)
-
Benigne familiäre Anfälle des Neugeborenen- und Säuglingsalters
Zeitschrift für Epileptologie (2008)
-
Epilepsy: A Review of Selected Clinical Syndromes and Advances in Basic Science
Journal of Cerebral Blood Flow & Metabolism (2006)