The genetics of status epilepticus.

Epilepsia

Department of Pharmacology and Pharmaceutical Sciences, USC School of Pharmacy, Los Angeles, California, USA.

Published: December 2009

Many common diseases and disorders, such as hypertension, diabetes, arthritis, and epilepsy, have a genetic component with a complex genetic architecture. Evidence for a genetic influence on epilepsy emerged in twin studies that reported concordance rates consistently higher in monozygotic than in dizygotic twins (Lennox, 1951; Sillanpää et al., 1991; Berkovic et al., 1998). The causation of epilepsy is multifactorial (a combination of environmental and genetic risk factors), and the genetic part is very complex (polygenic). For example, mutations in different genes can cause the same syndromes in different families (Cossette et al., 2002; Suzuki et al., 2004). Equally concerning is the second complication of variable expressivity, in which mutations in a single gene can produce different epilepsy phenotypes in different individuals as a result of modifying genetic or environmental factors (Kanai et al., 2004; Mulley et al., 2005). Therefore, similar to many other complex diseases, it has been suggested that epilepsy is a polygenic syndrome, influenced by the effect of variation at several or multiple genes (reviewed in Ottman et al., 1996; Anderson et al., 2002).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839875PMC
http://dx.doi.org/10.1111/j.1528-1167.2009.02372.xDOI Listing

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