Angelman syndrome: correlations between epilepsy phenotypes and genotypes.

@article{Minassian1998AngelmanSC,
  title={Angelman syndrome: correlations between epilepsy phenotypes and genotypes.},
  author={Berge A Minassian and Timothy M Delorey and Richard W. Olsen and Michel Philippart and Yigal Bronstein and Qian Zhang and Renzo Guerrini and P. H. Van Ness and M. O. Livet and Antonio V Delgado-Escueta},
  journal={Annals of neurology},
  year={1998},
  volume={43 4},
  pages={485-93}
}
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 videotaping and digitized electroencephalogrpahic (EEG) telemetry. Patients from all… CONTINUE READING

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