The epilepsy of adult patients with Angelman syndrome (AS)
β Scribed by B. Minassian; A.V. Delgado-Escueta; M. Philippart; T. Delorey; R. Olsen
- Book ID
- 115871527
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 166 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0013-4694
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## Abstract We describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11β13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due
## Abstract Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of