Neurological aspects of the Angelman syndrome

CA Williams - Brain and Development, 2005 - Elsevier
Angelman syndrome (AS) has emerged as an important neurogenetic syndrome due to its
relatively high prevalence and easier confirmation of the diagnosis by improved genetic
testing. In infancy, nonspecific clinical features of AS pose diagnostic challenges to the
neurologist and these include any combination of microcephaly, seizure disorder, global
developmental delay or an ataxic/hypotonic cerebral palsy-like picture. In later childhood,
however, absent speech, excessively happy behavior, ataxia and jerky movements usually …