Abstracts

To study the clinical grounds, neuroimaing and EEG activity from a three-generation of family with autosomal dominance of adult-onset myoclonic epilepsy., A 3-generation family of 10 affected members in east-Taiwan was studied with video-EEG and brain MRI., Autosomal dominant hereditary was showed. The myoclonic seizure semiology is characterized by bilaterally symmetric jerks of the shoulders, arms, or legs. Ictally, the consciousness is not affected. The ictal EEG demonstrated polyspike-wave. Rare generalized tonic-clonic seizures occur in 2 patients. No absence is reported. The myoclonic seizures do not related to sleepiness. And no involuntary movement, such as chreoasthetosis or astasia was accompanied. No structural disorder was demonstrated. A lower dose of valproic acid (200 to 500 mg/D) is required to stop the myoclonic seizure., Mutations of the GABRA1 gene, CACNB4 gene and CLCN2 gene have been described in the autosomal dominance inheritance patterns of juvenile myoclonic epilepsy (range, 10 to 20 years). Late-adult onset of myoclonic epilepsy is not a recognized epileptic syndrome. This is a distinct familial epileptic syndrome different from recognized myoclonic epilepsies in infancy and early childhood, or myoclonias and absences in childhood and adolescence.,