Juvenile myoclonic epilepsy (JME) is a generalized, non-progressive epilepsy characterized by an adolescent onset of sudden, involuntary myoclonic jerks. Greenberg et al. (American Journal of Medical Genetics 31:185-192, 1988b; Cytogenetics and Cell Genetics 51:1008, 1989b) reported tight linkage of a JME locus to the HLA region of chromosome 6p. We confirm this linkage assignment, although at a larger recombination fraction than previously reported. Twenty-three, mostly nuclear, families were ascertained through a JME proband. The affected status of relatives of the probands was assigned by 4 different clinical criteria, and separate analyses were done assuming an autosomal dominant model with 90% penetrance and an autosomal recessive model with full penetrance. A linear age-of-onset correction with maximum penetrance at age 20 years was incorporated into the analyses. The maximum lod score obtained was 3.11 at (-)m = 0.001, (-)f = 0.20, assuming autosomal dominant inheritance and using the second definition of the disease phenotype. There was strong support for linkage using the other phenotype definitions and the autosomal dominant model, although the lod scores did not exceed 3.0. There was also support for linkage of a JME locus to this region under the autosomal recessive model, although the results varied depending upon the definition of the disease phenotype. There was no significant evidence for linkage heterogeneity.

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Although recent advances in seizure anticipation have been achieved with the development of several biomathematical electroencephalographic (EEG) methods, pre-ictal clinical phenomena have not been extensively investigated. The aim of the study was to thoroughly analyze premonitory or prodromal symptoms (PS) in a randomly selected sample of 100 adult epileptic patients. A semi-structured protocol was used for in-person interviews to both patients and observers. PS were found in 39% of patients, the most frequent ones being behavioral, cognitive and mood changes. Both patients with focal and generalized epilepsies reported prodromes, although they were more frequently found in the former group. PS were mostly perceived preceding complex partial and generalized tonic-clonic seizures. Prodromal symptoms were reported to have an insidious onset and their duration ranged from 30min to several hours. The potential value of prodromes in seizure anticipation would allow the use of preventive and therapeutic measures, including drugs, neurostimulation procedures and behavioral intervention.

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