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- W2001026423 abstract "Finally, and with some relief, efforts are underway in epilepsy genetics to explore the complex genetic basis of seizure predisposition. Since 1995, a steady stream of gene mutations—most often causing autosomal dominant channelopathies—has been discovered for mendelian idiopathic epilepsy, 1 Turnbull J Lohi H Kearney JA et al. Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet. 2005; 14: 2491-2500 Crossref Scopus (82) Google Scholar , 2 Gourfinkel-An I Baulac S Nabbout R et al. Monogenetic idiopathic epilepsies. Lancet Neurol. 2004; 3: 209-216 Summary Full Text Full Text PDF PubMed Scopus (80) Google Scholar , 3 Berkovic SF Mulley JC Scheffer IE Petrou Human epilepsies: interaction of genetic and acquired factors. Trends Neurosci. 2006; 29: 391-397 Summary Full Text Full Text PDF PubMed Scopus (164) Google Scholar which has led to invaluable insights into the mechanisms and pathophysiology of epilepsy and given neurologists and neuroscientists a rich vein of research activity. However, these cases remain rare outliers, and the mutations have rarely translated into diagnostic markers for common epilepsy, with the notable exception of the association between mutations in SCN1A and the severe myoclonic epilepsy in infancy phenotype. In hindsight, it is probably this continuing success with mendelian forms of epilepsy that has delayed the logistically difficult task of researching complex genetics, although no investigator should ignore autosomal dominant pedigrees. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyThe underlying genetic component to sporadic epilepsy is clearly complex. Results suggest that many SNPs contribute to disease predisposition in an apparently population-specific manner. However, subtle differences in phenotyping across cohorts, combined with a poor understanding of how the underlying genetic component to epilepsy aligns with current phenotypic classifications, might also account for apparent population-specific genetic risk factors. Variations across five genes warrant further study in independent cohorts to clarify the tentative association. Full-Text PDF" @default.
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- W2001026423 date "2007-11-01" @default.
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- W2001026423 title "The conundrum of complexity in epilepsy" @default.
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- W2001026423 doi "https://doi.org/10.1016/s1474-4422(07)70253-3" @default.
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