A Mild and Atypical Presentation of 15q11.2 BP1-BP2 Microdeletion: Absence Epilepsy without Neurodevelopmental Impairment

A Case Report | Open Access

Volume 2025 - 4 | Article ID 272 | http://dx.doi.org/10.51521/WJCRCI.2025.e42.416

A Mild and Atypical Presentation of 15q11.2 BP1-BP2 Microdeletion: Absence Epilepsy without Neurodevelopmental Impairment

Academic Editor: John Bose

Received 2025-09-15
Revised 2025-09-26
Accepted 2025-10-04
Published 2025-10-07

Berra Agladioglu¹*, Hakki Murat Yarar², İbrahim Akalin³

¹Metagentech Genetik Hastalıklar Değerlendirme Merkezi, Research Intership Business Umraniye, Fera, Namık Kemal, Sütçü İmam Cd. No:28/7 Kat:2 Ofis:7 İstanbul, Umraniye, TR 34746

²Ümraniye Training and Research Hospital, Genetic Diseases Evaluation Center, Istanbul, Türkiye, Genetics Elmalıkent Mahallesi Adem Yavuz Cad. No:1 İstanbul İstanbul, Umraniye, TR; Email: dr.murathakkigen@gmail.com

³Metagentech Genetik Hastalıklar Değerlendirme Merkezi, Research Intership Business Umraniye, Fera, amık Kemal, Sütçü İmam Cd. No:28/7 Kat:2 Ofis:7 İstanbul, Umraniye, TR 34746; Email: ibrahimakalin@yahoo.com

Co-corresponding authors: Berra Agladioglu, Metagentech Genetik Hastalıklar Değerlendirme Merkezi, Research Intership Business Umraniye, Fera, Namık Kemal, Sütçü İmam Cd. No:28/7 Kat:2 Ofis:7 İstanbul, Umraniye, TR 34746, ORCID iD: 0009-0004-3668-187X; berra.agladi@gmail.com

Citation: Berra Agladioglu, Hakki Murat Yarar, İbrahim Akalin (2025) A Mild and Atypical Presentation of 15q11.2 BP1-BP2 Microdeletion: Absence Epilepsy without Neurodevelopmental Impairment. World J Case Rep Clin Imag. 2025 October; 4(2),1-4.

Copyrights: © Berra Agladioglu, et al., 2025, This article is licensed under the Creative Commons Attribution-Non Commercial-4.0-International-License-(CCBY-NC) (https://worldjournalofcasereports.org/blogpage/copyright-policy). Usage and distribution for commercial purposes require written permission.

Abstract:

We present a 17.5-year-old female with a de novo 15q11.2 BP1-BP2 microdeletion who developed absence epilepsy despite entirely normal neurodevelopment and excellent academic performance. Her seizures were successfully managed at different times with antiepileptic drugs (AEDs) from three pharmacological classes, with optimal mood stabilization achieved under lamotrigine. Whole exome sequencing identified no additional pathogenic variants associated with epilepsy or neurodevelopmental disorders. Parental testing confirmed de novo occurrence and written informed consent for publication was obtained from the patient and her guardians. This case highlights the phenotypic variability and incomplete penetrance of the 15q11.2 microdeletion and underscores the value of genetic testing even in neurodevelopmentally typical individuals presenting with atypical seizure patterns.

Keywords: Epilepsy, Neurodevelopment, Seizures, 15q11.2 BP1-BP2 microdeletion