Cortical myoclonus in Angelman syndrome.

@article{Guerrini1996CorticalMI,
  title={Cortical myoclonus in Angelman syndrome.},
  author={Renzo Guerrini and T M De Lorey and Paolo Bonanni and Anne Moncla and Charlotte Dravet and Gen Suisse and M. O. Livet and Michelle Bureau and Perrine Malzac and Pierre Genton and P. P. Thomas and Ferdinando Sartucci and P. V. Simi and Jos{\'e} Mar{\'i}a Serratosa},
  journal={Annals of neurology},
  year={1996},
  volume={40 1},
  pages={39-48}
}
Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes (beta3, alpha5, and gamma3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 AS patients, aged 3 to 28 years. Two patients had paternal uniparental disomy for chromosome 15, 8 had a >3 Mb deletion, and 1 had a microdeletion involving… CONTINUE READING
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