Localization of a gene for partial epilepsy to chromosome 10q

Abstract

There is strong evidence for a genetic contribution to epilepsy, but it is commonly assumed that this genetic contribution is limited to 'generalized' epilepsies, and that most forms of 'partial' epilepsy are nongenetic. In a linkage analysis of a single family containing 11 affected individuals, we obtained strong evidence for localization of a gene for partial epilepsy. This susceptibility gene maps to chromosome 10q, with a maximum two-point lod score for D10S192 of 3.99 at theta = 0.0. All affected individuals share a single haplotype for seven tightly linked contiguous markers; the maximum lod score for this haplotype is 4.83 at theta = 0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval.

Fig. 1

Pedigree of family. Filled symbols denote individuals with idiopathic/cryptogenic epilepsy. Symbols containing ‘?’ denote those with symptomatic epilepsy, acute symptomatic seizures, or possible but unconfirmed epilepsy, all of whom were classified as unknown in the analysis. Individuals currently younger than age 20 who have never had seizures are omitted from the pedigree. Marker genotypes are shown in the same order as in Table 2. Genotypes are shown only for individuals with idiopathic/cryptogenic epilepsy and their parents. Alleles shown in parentheses are inferred from the genotypes of other relatives, including some whose genotypes are omitted from the figure.