We describe a pedigree in which eight individuals presented with a non-progressive disorder with onset between the ages of 12 and 50 years. It was characterized by predominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizures (all patients) and complex partial seizures (three patients). Most individuals had rarely suffered seizures and had a normal cognitive level, but three individuals with intractable seizures had mild mental retardation
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2 / Guerrini R; Parmeggiani L; Marini C; Brovedani P; Bonanni P. - In: ADVANCES IN NEUROLOGY. - ISSN 0091-3952. - STAMPA. - 95:(2005), pp. 273-279. [10.1093/brain/124.12.2459]
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2
GUERRINI, RENZO;Bonanni P.
2005
Abstract
We describe a pedigree in which eight individuals presented with a non-progressive disorder with onset between the ages of 12 and 50 years. It was characterized by predominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizures (all patients) and complex partial seizures (three patients). Most individuals had rarely suffered seizures and had a normal cognitive level, but three individuals with intractable seizures had mild mental retardationI documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.