Ontology highlight
ABSTRACT:
SUBMITTER: Riday TT
PROVIDER: S-EPMC3533533 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Riday Thorfinn T TT Dankoski Elyse C EC Krouse Michael C MC Fish Eric W EW Walsh Paul L PL Han Ji Eun JE Hodge Clyde W CW Wightman R Mark RM Philpot Benjamin D BD Malanga C J CJ
The Journal of clinical investigation 20121112 12
Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deletions or mutations of the ubiquitin ligase E3A (UBE3A) allele and characterized by minimal verbal communication, seizures, and disorders of voluntary movement. Previous studies have suggested that abnormal dopamine neurotransmission may underlie some of these deficits, but no effective treatment currently exists for the core features of AS. A clinical trial of levodopa (L-DOPA) in AS is ongoing, although the underlyin ...[more]