[Progressive myoclonus epilepsy in two siblings and 5 cases with dyssynergia cerebellaris myoclonica in several generations of a kinship, a clinical and genetic study].
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000235:genetics; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D012737:Sex Factors; D013577:Syndrome
Uber 2 Geschwisterfälle mit progressiver Myoklonusepilepsie und 5 Fälle mit Dyssynergia cerebellaris myoclonica in mehreren Generationen einer Sippe--eine klinische und genetische Studie