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Juvenile myoclonic epilepsy(JME)is a distinct subform of idiopathic generalized epilepsy of adolescence.Linkage studies with Bf and seriologic HLA markers in families of JME patients have shown a tight linkage on chromosome 6.We present a linkage analysis with HLA-DQ restriction fragment length polymorphisms on more extended families,paying particular attention to the epilepsy type of the affected family members.We studied 21 families of JME patients with a total of 143 family members and obtained a highest logarithm of the odds(lod)score of 3.9(0m=0.01,0f=0.01) assuming a dominant mode of inheritance and 70%penetrance when family members with JME,absence epilepsy,or epilepsy with generalized tonic- clonic seizures(GTCS)were considered as affected.When we also classified clinically normal family members with generalized spike-wave discharges in the EEG as"affected,"the maximum lod score was 4.1(0m=0.01,0f=0.3)under a dominant mode of inheritance and 90%penetrance.These findings support the conclusion that a gene locus for a group of idiopathic generalized epilepsies(JME,epilepsy with absences,and epilepsy with GTCS)maps to chromosome 6p. |
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