Evidence for multiple gene loci in the expression of the common generalized epilepsies - PubMed (original) (raw)
Review
. 1992 Apr;42(4 Suppl 5):56-62.
Affiliations
- PMID: 1574177
Review
Evidence for multiple gene loci in the expression of the common generalized epilepsies
D A Greenberg et al. Neurology. 1992 Apr.
Abstract
Our knowledge of genetic factors influencing expression of epilepsy has increased enormously in the last 10 years. In this article, we review the advantages and problems of population genetics studies, twin studies, and linkage analysis as applied to the study of epilepsy. Population genetics, twin studies, and linkage analysis have placed the evidence for the genetic basis of the generalized epilepsies on a firm foundation. The identification and confirmation of a gene locus involved in the expression of juvenile myoclonic epilepsy and other forms of generalized epilepsy is proof of at least one genetic influence. We also review the evidence that other, still-undiscovered genetic factors might influence the expression of other forms of generalized epilepsy.
Similar articles
- Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.
Delgado-Escueta AV, Medina MT, Serratosa JM, Castroviejo IP, Gee MN, Weissbecker K, Westling BW, Fong CY, Alonso ME, Cordova S, Shah P, Khan S, Sainz J, Rubio-Donnadieu F, Sparkes RS. Delgado-Escueta AV, et al. Adv Neurol. 1999;79:351-74. Adv Neurol. 1999. PMID: 10514826 - Do idiopathic generalized epilepsies share a common susceptibility gene?
Janz D, Beck-Mannagetta G, Sander T. Janz D, et al. Neurology. 1992 Apr;42(4 Suppl 5):48-55. Neurology. 1992. PMID: 1574176 - Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type.
Durner M, Keddache MA, Tomasini L, Shinnar S, Resor SR, Cohen J, Harden C, Moshe SL, Rosenbaum D, Kang H, Ballaban-Gil K, Hertz S, Labar DR, Luciano D, Wallace S, Yohai D, Klotz I, Dicker E, Greenberg DA. Durner M, et al. Ann Neurol. 2001 Mar;49(3):328-35. Ann Neurol. 2001. PMID: 11261507 - The choice of epilepsy syndromes for genetic analysis.
Delgado-Escueta AV, Greenberg DA, Weissbecker K, Serratosa JM, Liu A, Treiman LJ, Sparkes R, Park MS, Barbetti A. Delgado-Escueta AV, et al. Epilepsy Res Suppl. 1991;4:147-59. Epilepsy Res Suppl. 1991. PMID: 1815597 Review. No abstract available. - Genetics of myoclonic and myoclonus epilepsies.
Minassian BA, Sainz J, Delgado-Escueta AV. Minassian BA, et al. Clin Neurosci. 1995-1996;3(4):223-35. Clin Neurosci. 1995. PMID: 8891396 Review.
Cited by
- Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.
Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, Alvin GB, Klotz I, Dicker E, Shinnar S, Bromfield EB, Resor S, Cohen J, Moshe SL, Harden C, Kang H. Greenberg DA, et al. Am J Hum Genet. 2005 Jan;76(1):139-46. doi: 10.1086/426735. Epub 2004 Nov 5. Am J Hum Genet. 2005. PMID: 15532013 Free PMC article. - BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.
Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA. Pal DK, et al. Am J Hum Genet. 2003 Aug;73(2):261-70. doi: 10.1086/377006. Epub 2003 Jun 25. Am J Hum Genet. 2003. PMID: 12830434 Free PMC article. - How should we be searching for genes for common epilepsy? A critique and a prescription.
Greenberg DA, Stewart WC. Greenberg DA, et al. Epilepsia. 2012 Sep;53 Suppl 4(0 4):72-80. doi: 10.1111/j.1528-1167.2012.03616.x. Epilepsia. 2012. PMID: 22946724 Free PMC article. Review. - The state of the art in the genetic analysis of the epilepsies.
Greenberg DA, Pal DK. Greenberg DA, et al. Curr Neurol Neurosci Rep. 2007 Jul;7(4):320-8. doi: 10.1007/s11910-007-0049-8. Curr Neurol Neurosci Rep. 2007. PMID: 17618539 Free PMC article. Review. - GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.
Velíšek L, Shang E, Velíšková J, Chachua T, Macchiarulo S, Maglakelidze G, Wolgemuth DJ, Greenberg DA. Velíšek L, et al. PLoS One. 2011;6(8):e23656. doi: 10.1371/journal.pone.0023656. Epub 2011 Aug 24. PLoS One. 2011. PMID: 21887291 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources