[Angelman syndrome: clinical and genetic model].
Angelman syndrome is a neurogenetic disorder characterized by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioural phenotype associated with abnormalities of chromosome 15q11-13. Precise diagnosis carries clinical and genetic counseling implications. However, many clinicians still seem unfamiliar with it despite the severity and typical aspects of presentation. Beyond individual situations, Angelman syndrome can serve as a model opening broad questioning of genetic and epigenetic influences in neurology, as well as of several concepts such as psychomotor development, cerebral palsy, behavioural phenotypes and epileptic syndromes. Recent advances in molecular biology and animal models of the syndrome provide new data which must be included in our interpretation of Angelman syndrome.
Dan
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Service de Neurologie, Hôpital Universitaire des Enfants Reine Fabiola, Bruxelles, Belgium. bernard.dan@ulb.ac.be
Chéron
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D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002547:Cerebral Palsy / Q000150:complications; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008025:Ligases / Q000235:genetics; D001523:Mental Disorders / Q000150:complications; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D011596:Psychomotor Disorders / Q000150:complications; D013064:Speech Disorders / Q000150:complications; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; D008025:Ligases