[HTML][HTML] Clinical and genetic aspects of Angelman syndrome

CA Williams, DJ Driscoll, AI Dagli - Genetics in Medicine, 2010 - Elsevier
Angelman syndrome is characterized by severe developmental delay, speech impairment,
gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that
includes happy demeanor and excessive laughter. Microcephaly and seizures are common.
Developmental delays are first noted at 3 to 6 months age, but the unique clinical features of
the syndrome do not become manifest until after age 1 year. Management includes
treatment of gastrointestinal symptoms, use of antiepileptic drugs for seizures, and provision …