Iron overload without the C282Y mutation in patients with epilepsy.
To test the hypothesis that iron overload predisposes to epilepsy, transferrin saturation in 130 patients with epilepsy and sex and age matched 128 control subjects without epilepsy were studied. Mean transferrin saturation was significantly higher in the epilepsy group (39.9 (SD 19.6)%) than in the control group (29.1 (SD 14.9)%). Abnormally high transferrin saturations (men>60%, women>48%) were found in 10 patients with epilepsy but in only one subject without epilepsy. Antiepileptic drugs did not affect the transferrin saturation. Of the 11 with abnormally high transferrin saturation, two with epilepsy were heterozygotic for H63D in the haemochromatosis gene but no patient had the C282Y mutation. These results indicate that iron overload other than the C282Y mutation underlies epilepsy.
Ikeda
M
M
Department of Clinical Research, National Saigata Hospital, Ohgata-machi, Niigata 949-3193, Japan. massie@saigata-nh.go.jp
D000328:Adult; D004827:Epilepsy / Q000097:blood* / Q000235:genetics*; D005260:Female; D006432:Hemochromatosis / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D014168:Transferrin / Q000032:analysis
D014168:Transferrin