| Literature DB >> 10536901 |
L A Laan1, A v Haeringen, O F Brouwer.
Abstract
This paper reviews Angelman syndrome (AS) with regard to the clinical features in childhood and adulthood, epileptic seizures and EEG findings, neuroimaging studies and the present knowledge on the genetic mechanisms underlying this syndrome. Different clinical phenotypes and genotypes of AS are described, including chromosome 15q11-13 deletion, uniparental disomy, methylation imprinting abnormalities and mutations in the UBE3A gene.Entities:
Mesh：
Year: 1999 PMID： 10536901 DOI： 10.1016/s0303-8467(99)00030-x
Source DB: PubMed Journal: Clin Neurol Neurosurg ISSN： 0303-8467 Impact factor: 1.876