CALL FOR PAPERS     SUBMISSION LAST DATE      28th April, 2026 FOR MAY ISSUE     

International Journal of Sciences and Applied Research

ISSN NO : 2394-384X (Print)
ISSN NO : 2394-2401 (Online)

IMPACT FACTOR : 6.79 (SJIF)
4.635(COSMOS)

JOURNAL DOI : 10.65122/IJSAR


ARTICLES

NEUROGENETIC ENIGMA OF ANGELMAN SYNDROME: FROM IMPRINTING TO INNOVATION: A COMPREHENSIVE REVIEW

Authors

  • Dr. Yasin Mansuri* and Mehra Ashishrai

Keywords:

Abstract

Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by severe developmental delay, intellectual disability, absent or minimal speech, movement abnormalities, and a unique behavioral phenotype marked by frequent laughter and an excitable personality. The disorder results primarily from genetic abnormalities involving the UBE3A gene on chromosome 15q11–q13. This review provides an overview of the etiology, clinical features, diagnostic approaches, management strategies, and recent therapeutic advances in Angelman Syndrome. Despite the absence of a definitive cure, early diagnosis and supportive interventions significantly improve quality of life. Therefore, this review highlights the epigenetic aspects involved in the AS in order to provide a better understanding and clarification of the mechanisms, hopefully paving the way for future research to improve the treatment of affected individuals.

Section

Articles