During the past three years, the main thrust of this work has involved a comparison of the neuropsychological test profiles of patients with seizure disorders (generalized as well as focal) with those of their first-degree relatives. In an earlier study of 12 families with probands diagnosed with childhood absence epilepsy (CAE), the results indicated that the mothers, but not the fathers of the patients share in mild form some of the behavioral impairment seen in the probands (Levav, 1991). This was evident in tests of sustained attention (the Continuous Performance Test, CPT; Rosvold et al., 1956). This result is consistent with prior research on the inheritance of the disorder. In the present study we assessed probands and their healthy first degree relatives, as well as healthy control pairs, in their performance on neuropsychological tests. We assessed proband-relative pairs with Juvenile Myoclonic Epilepsy (JME), Temporal Lobe Epilepsy (TLE) and Childhood Absence Epilepsy (CAE). Attention, memory and problem-solving behavior were studied in order to evaluate possible familial aggregation of cognitive traits. The analysis thus far indicates that there is a strong familial aggregation of traits associated with control of impulsivity and vigilance in the sustained attention tasks, seen especially in the JME families. This was not seen in the TLE families, and only to a modest extent in the CAE families. We are currently collaborating with geneticists who are interested in localizing the epilepsy gene associated with JME--most likely including location 21.3 on chromosome 6p--and whose work on identifying the phenotype of JME dovetails well with our own neuropsychological data. - epilepsy, attention impairment, genetics, chromosome 6p - Human Subjects
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