Article
Cortical myoclonus in Angelman syndrome.
Annals of neurology - 1 Jul 1996
Guerrini R, De Lorey T M, Bonanni P, Moncla A, Dravet C, Suisse G, Livet M O, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa J M
Abstract excerpt
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...
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