Article
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia - 1 Sept 2002
Chifari Rosanna, Guerrini Renzo, Pierluigi Mauro, Cavani Simona, Sgrò Vincenzo, Elia Maurizio, Canger Raffaele, Canevini Maria Paola
Abstract excerpt
PURPOSE: Several studies attempted to clarify the genotype-phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader-Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including...
Topics
- Adult
- Age of Onset
- Angelman Syndrome
- Anticonvulsants
- Chromosome Aberrations
- Chromosome Inversion
- Chromosomes, Human, Pair 15
- Electroencephalography
- Epilepsy, Absence
- Epilepsy, Generalized