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ARTICLE

Mice Lacking the β3 Subunit of the GABAA Receptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

T. M. DeLorey, A. Handforth, S. G. Anagnostaras, G. E. Homanics, B. A. Minassian, A. Asatourian, M. S. Fanselow, A. Delgado-Escueta, G. D. Ellison and R. W. Olsen
Journal of Neuroscience 15 October 1998, 18 (20) 8505-8514; DOI: https://doi.org/10.1523/JNEUROSCI.18-20-08505.1998
T. M. DeLorey
1Departments of Molecular and Medical Pharmacology and
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A. Handforth
3Neurology Division, West Los Angeles Veteran’s Affairs Medical Center, Los Angeles, California 90073, and
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S. G. Anagnostaras
2Psychology, University of California, Los Angeles, California 90095, and
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G. E. Homanics
4Department of Anesthesiology/Critical Care Medicine, University of Pittsburgh, Pennsylvania 15261
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B. A. Minassian
3Neurology Division, West Los Angeles Veteran’s Affairs Medical Center, Los Angeles, California 90073, and
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A. Asatourian
3Neurology Division, West Los Angeles Veteran’s Affairs Medical Center, Los Angeles, California 90073, and
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M. S. Fanselow
2Psychology, University of California, Los Angeles, California 90095, and
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A. Delgado-Escueta
2Psychology, University of California, Los Angeles, California 90095, and
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G. D. Ellison
2Psychology, University of California, Los Angeles, California 90095, and
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R. W. Olsen
1Departments of Molecular and Medical Pharmacology and
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Abstract

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 β3subunit (GABRB3) gene, contained within the AS deletion region, may contribute to the overall severity of AS. Disrupting the gabrb3 gene in mice produces electroencephalographic abnormalities, seizures, and behavior that parallel those seen in AS. The seizures that are observed in these mice showed a pharmacological response profile to antiepileptic medications similar to that observed in AS. Additionally, these mice exhibited learning and memory deficits, poor motor skills on a repetitive task, hyperactivity, and a disturbed rest–activity cycle, features all common to AS. The loss of the single gene, gabrb3, in these mice is sufficient to cause phenotypic traits that have marked similarities to the clinical features of AS, indicating that impaired expression of the GABRB3 gene in humans probably contributes to the overall phenotype of Angelman syndrome. At least one other gene, the E6-associated protein ubiquitin-protein ligase (UBE3A) gene, has been implicated in AS, so the relative contribution of the GABRB3 gene alone or in combination with other genes remains to be established.

  • epilepsy
  • seizure
  • Angelman syndrome
  • GABAAreceptor
  • mouse model
  • GABRB3
  • learning and memory
  • hyperactivity
  • motor coordination
  • sleep
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The Journal of Neuroscience: 18 (20)
Journal of Neuroscience
Vol. 18, Issue 20
15 Oct 1998
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Mice Lacking the β3 Subunit of the GABAA Receptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome
T. M. DeLorey, A. Handforth, S. G. Anagnostaras, G. E. Homanics, B. A. Minassian, A. Asatourian, M. S. Fanselow, A. Delgado-Escueta, G. D. Ellison, R. W. Olsen
Journal of Neuroscience 15 October 1998, 18 (20) 8505-8514; DOI: 10.1523/JNEUROSCI.18-20-08505.1998

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Mice Lacking the β3 Subunit of the GABAA Receptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome
T. M. DeLorey, A. Handforth, S. G. Anagnostaras, G. E. Homanics, B. A. Minassian, A. Asatourian, M. S. Fanselow, A. Delgado-Escueta, G. D. Ellison, R. W. Olsen
Journal of Neuroscience 15 October 1998, 18 (20) 8505-8514; DOI: 10.1523/JNEUROSCI.18-20-08505.1998
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Keywords

  • epilepsy
  • seizure
  • Angelman syndrome
  • GABAAreceptor
  • mouse model
  • GABRB3
  • learning and memory
  • hyperactivity
  • motor coordination
  • sleep

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