title: Epileptic seizures in aspartylglucosaminuria: a common disorder.
abstract: 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.
authors.affiliation: Pääjärvi Rehabilitation Centre, Lammi, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Arvio
authors.forename: V
authors.initials: V
authors.lastname: Oksanen
authors.forename: S
authors.initials: S
authors.lastname: Autio
authors.forename: E
authors.initials: E
authors.lastname: Gaily
authors.forename: K
authors.initials: K
authors.lastname: Sainio
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002540:Cerebral Cortex / Q000187:drug effects / Q000503:physiopathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004305:Dose-Response Relationship, Drug; D004569:Electroencephalography / Q000187:drug effects; D004828:Epilepsies, Partial / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005071:Evoked Potentials / Q000187:drug effects; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests
chemical_list: D000927:Anticonvulsants; C000009:N-acetylglucosaminylasparagine; D000117:Acetylglucosamine