Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

@article{Delorey1998MiceLT,
  title={Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.},
  author={Timothy M Delorey and Adrian Handforth and Stephan G. Anagnostaras and Gregg E Homanics and Berge A Minassian and A Asatourian and Michael S Fanselow and Antonio V Delgado-Escueta and Gaylord D. Ellison and Richard W. Olsen},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={1998},
  volume={18 20},
  pages={8505-14}
}
Angelman syndrome (AS) is a severe neurodevelopmental disorder resulting from a deletion/mutation in maternal chromosome 15q11-13. The genes in 15q11-13 contributing to the full array of the clinical phenotype are not fully identified. This study examines whether a loss or reduction in the GABAA receptor beta3 subunit (GABRB3) gene, contained within the AS deletion region, may contribute to the overall severity of AS. Disrupting the gabrb3 gene in mice produces electroencephalographic… CONTINUE READING

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Evolu - tion of epilepsy and EEG findings in Angelman syndrome

  • Laan LAEM, WO Renier, +7 authors OF Brouwer
  • Epilepsia
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