[Progressive familial myoclonic epilepsy (Unverricht-Lundborg syndrome). Genetic, clinical, polygraphic and histopathologic findings].
D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D004569:Electroencephalography; D004576:Electromyography; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D004831:Epilepsies, Myoclonic / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006023:Glycoproteins / Q000032:analysis; D006025:Glycosaminoglycans / Q000032:analysis; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000648:ultrastructure; D008297:Male; D009431:Neural Conduction; D010375:Pedigree; D012895:Sleep, REM / Q000502:physiology; D013116:Spinal Cord / Q000473:pathology
D006023:Glycoproteins; D006025:Glycosaminoglycans
L'epilessia mioclonica familiare progressiva (sindrome di Unverricht-Lundborg). Indagine genetica, clinica, poligrafica e istopatologica.