European Journal of Biomedical and Pharmaceutical Sciences

ANGELMAN SYNDROME: AN UPDATED REVIEW

Ridhi Singh*, Abu Muqarim Hayat, Mukesh Choudhary and Ishu Aashutosh Sinwal

ABSTRACT

The illness now referred to as Angelman syndrome (AS), originally termed the "Puppet Children," was first
recorded in 1965 by a British physician named Harry Angelman. Angelman observed that three children with
cognitive disability had certain traits: a positive disposition towards people, uncoordinated or spasmodic motions,
and limited or absent verbal communication abilities. In 1987, Ellen Magenis discovered two children with notable
deletions on chromosome 15. This genetic abnormality was linked to a phenotype characterized by severe ataxia,
seizures, and episodes of prolonged and spontaneous laughter. Due to its exclusive imprinting in the brain, the
expression of the UBE3A gene is limited to the neurological system, leading to most of the manifestations of
Angelman syndrome (AS) being confined to this system. Patients who are suspected of having Angelman
syndrome are initially assessed by clinical evaluation using DNA methylation assays, specifically targeting the
differentially methylated SNRPN promoter/exon 1 region. The current approach to managing Angelman syndrome
is mostly focused on addressing symptoms, however, there are promising gene-based medicines under
development. The primary emphasis of medications used in the treatment of epilepsy in Angelman syndrome is on
moderate motor or akinetic seizures. Valproate, clonazepam, topiramate, lamotrigine, and levetiracetam have
demonstrated potential, whilst carbamazepine, phenobarbital, oxcarbazepine, and vigabatrin have shown limited
potential.

Keywords: Angelman syndrome, Chromosome 15, Puppet Children, Haploinsufficiency syndrome, UBE3A gene.