Acta Neurologica Scandinavica 1993-May
Epileptic seizures in aspartylglucosaminuria: a common disorder.
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Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with reduced life-span. An analysis of 121 Finnish patients showed that 22 to 78 adults (28%) and one of 43 children (2%) had epileptic seizures. Twelve patients had the onset of attacks after the age of 30 years. Eleven patients had generalized, nine partial and three unclassified seizures. The response to carbamazepine was good. The major interictal EEG abnormality was the attenuation of the amplitude found in 10/27 patients. The brain CT-scans showed diffuse atrophy in 8/11 patients.