Article
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.
Annals of neurology - 1 Apr 1998
Minassian B A, DeLorey T M, Olsen R W, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet M O, Delgado-Escueta A V
Abstract excerpt
We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenetic and molecular diagnosis of AS. All patients had 6 to 72 hours of closed-circuit television...
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