Epilepsy genetics--past, present, and future - PubMed
Review
Epilepsy genetics--past, present, and future
Annapurna Poduri et al. Curr Opin Genet Dev. 2011 Jun.
Abstract
Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight important recent discoveries that have expanded the field beyond the realm of channels and neurotransmitters and that have challenged the notion that single genes produce single disorders. Finally, we project toward an exciting future for epilepsy genetics as large-scale collaborative phenotyping studies come face to face with new technologies in genomic medicine.
Copyright © 2011 Elsevier Ltd. All rights reserved.
Figures
The major epilepsy genes, including those highlighted in this review, are shown to depict their relative chromosomal locations on this schematic karyotype (adapted from the National Center for Biotechnology Information website
www.ncbi.nlm.nih.gov).
Similar articles
-
Lee J, Lee C, Ki CS, Lee J. Lee J, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1376. doi: 10.1002/mgg3.1376. Epub 2020 Jul 1. Mol Genet Genomic Med. 2020. PMID: 32613771 Free PMC article.
-
Perucca P, Bahlo M, Berkovic SF. Perucca P, et al. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:205-230. doi: 10.1146/annurev-genom-120219-074937. Epub 2020 Apr 27. Annu Rev Genomics Hum Genet. 2020. PMID: 32339036 Review.
-
De novo mutations in epilepsy.
Saitsu H, Matsumoto N. Saitsu H, et al. Dev Med Child Neurol. 2011 Sep;53(9):806-807. doi: 10.1111/j.1469-8749.2011.03994.x. Epub 2011 Jun 1. Dev Med Child Neurol. 2011. PMID: 21631463 No abstract available.
-
DiFrancesco JC, Castellotti B, Milanesi R, Ragona F, Freri E, Canafoglia L, Franceschetti S, Ferrarese C, Magri S, Taroni F, Costa C, Labate A, Gambardella A, Solazzi R, Binda A, Rivolta I, Di Gennaro G, Casciato S, D'Incerti L, Barbuti A, DiFrancesco D, Granata T, Gellera C. DiFrancesco JC, et al. Epilepsy Res. 2019 Jul;153:49-58. doi: 10.1016/j.eplepsyres.2019.04.004. Epub 2019 Apr 8. Epilepsy Res. 2019. PMID: 30986657 Review.
-
Advancing epilepsy genetics in the genomic era.
Myers CT, Mefford HC. Myers CT, et al. Genome Med. 2015 Aug 25;7(1):91. doi: 10.1186/s13073-015-0214-7. Genome Med. 2015. PMID: 26302787 Free PMC article. Review.
Cited by
-
From genetics to genomics of epilepsy.
Garofalo S, Cornacchione M, Di Costanzo A. Garofalo S, et al. Neurol Res Int. 2012;2012:876234. doi: 10.1155/2012/876234. Epub 2012 May 8. Neurol Res Int. 2012. PMID: 22645681 Free PMC article.
-
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.
Parikshak NN, Gandal MJ, Geschwind DH. Parikshak NN, et al. Nat Rev Genet. 2015 Aug;16(8):441-58. doi: 10.1038/nrg3934. Epub 2015 Jul 7. Nat Rev Genet. 2015. PMID: 26149713 Free PMC article. Review.
-
Toader O, Forte N, Orlando M, Ferrea E, Raimondi A, Baldelli P, Benfenati F, Medrihan L. Toader O, et al. Front Cell Neurosci. 2013 Aug 30;7:138. doi: 10.3389/fncel.2013.00138. eCollection 2013. Front Cell Neurosci. 2013. PMID: 24009558 Free PMC article.
-
Epi4K: gene discovery in 4,000 genomes.
Epi4K Consortium. Epi4K Consortium. Epilepsia. 2012 Aug;53(8):1457-67. doi: 10.1111/j.1528-1167.2012.03511.x. Epub 2012 May 29. Epilepsia. 2012. PMID: 22642626 Free PMC article.
-
Costain G, Bassett AS. Costain G, et al. Appl Clin Genet. 2012 Feb 20;5:1-18. doi: 10.2147/TACG.S21953. Appl Clin Genet. 2012. PMID: 23144566 Free PMC article.
References
-
- Cowan LD. The epidemiology of the epilepsies in children. Ment Retard Dev Disabil Res Rev. 2002;8:171–181. - PubMed
-
-
Prasad AN, Prasad C. Genetic Influences on the Risk for Epilepsy. In: Pellock JM, Bourgeois BFD, Dodson WE, et al., editors. Pediatric Epilepsy. Demos; New York: 2008. pp. 117–134. The authors present a comprehensive review of the evidence for a genetic influence on epilepsy.
-
-
- Sigurdardottir L, Poduri A. Inherited Epilepsies. In: Lynch DR, editor. Neurogenetics: Scientific and Clinical Advances. Taylor and Francis; New York: 2006. pp. 427–467.
-
- Lennox WG, Lennox MA. Epilepsy and related disorders. Little, Brown; Boston: 1960. The genetics of epilepsy.
-
- Steinlein OK. Genes and mutations in human idiopathic epilepsy. Brain Dev. 2004;26:213–218. - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous