Epilepsy, Familial Temporal Lobe, 3

For a general description and a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL2 (608096).

Clinical Features

Hedera et al. (2007) reported a 4-generation Caucasian family in which 11 living individuals had features consistent with mesial temporal lobe epilepsy. Ten individuals had simple partial seizures with intense feelings of deja vu at times associated with dizziness or nausea, and 8 also had complex partial seizures with altered awareness and staring. Four individuals had rare secondary generalization. Age at onset was variable, but most often in the second decade. The clinical course was relatively benign with only 4 patients treated with medication. Brain MRI of 3 patients was normal, with no evidence of structural abnormalities or hippocampal sclerosis. EEG studies were also normal in 5 patients; 1 additional patient had left anterior temporal sharp waves without definite epileptiform discharges. Three unaffected family members had affected offspring, suggesting autosomal dominant inheritance with incomplete penetrance.

Mapping

By genomewide linkage analysis of a 4-generation family, Hedera et al. (2007) identified a 7-cM candidate region on chromosome 4q13.2-q21.3 between markers D4S3018 and D4S2627 (maximum multipoint lod score of 5.05 at D4S1517).