JBCGenetics |

Case Report

Volume: 6 | Issue: 2 | Published: Jan 08, 2024 | Pages: 133 - 137 | DOI: 10.24911/JBCGenetics/183-1696016763

WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.

Authors: Moosa Al-Lawati , Zuha Al-Khaldi , Akbar Mohamed Chettali , Mariya Al-Hinai , Hiba Al-Mazrooey , Ali Al-Ajmi , Salma Al-Harasi , Nadia Al-Hashmi

Article Info

Authors

Moosa Al-Lawati

Pediatric resident, Oman Medical Specialty Board, Muscat, Sultanate of Oman

ORCID

Zuha Al-Khaldi

Oman Medical Specialty Board, Muscat, Sultanate of Oman

Akbar Mohamed Chettali

Consultant Pediatric Neurologist, Child Health Department, Royal Hospital, Sultanate of Oman

Mariya Al-Hinai

National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman

Hiba Al-Mazrooey

National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman

Ali Al-Ajmi

National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman

Salma Al-Harasi

National Genetic Center, Royal Hospital, Muscat, Sultanate of Oman

Nadia Al-Hashmi

Senior Consultant, Clinical & Biochemical Geneticist, Child Health Department, Royal Hospital, Muscat, Sultanate of Oman.

Publication History

Received: September 30, 2023

Revised: October 31, 2023

Accepted: December 17, 2023

Published: January 08, 2024

Abstract

Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life. It is proved to be caused by a pathogenic variance in WW domain-containing oxidoreductase (WWOX) gene. Case presentation: Here, we report a 5-year-old male patient with autosomal recessive DEE28. Whole exome sequencing (WES) test was conducted and resulted in a pathogenic result on WWOX gene pathogenic variant. To our knowledge, these are the first cases reported in Oman. Conclusion: For patients with DEE28, it is essential to take the full family history and genetic workup to assist in the diagnosis. In the future, gene therapy – which is currently being investigated - may help those patients to have a good quality of life and improve the prognosis of the disease.

Keywords: WWOX, epileptic encephalopathy, DEE28, WOREE syndrome

Pubmed Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBC Genetics. 2024; 08 (January 2024): 133-137. doi:10.24911/JBCGenetics/183-1696016763

Web Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. https://www.jbcgenetics.com/articles/2094 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1696016763

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBC Genetics. (2024), [cited April 27, 2025]; 08 (January 2024): 133-137. doi:10.24911/JBCGenetics/183-1696016763

Harvard Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi (2024) WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBC Genetics, 08 (January 2024): 133-137. doi:10.24911/JBCGenetics/183-1696016763

Chicago Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi. "WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.." 08 (2024), 133-137. doi:10.24911/JBCGenetics/183-1696016763

MLA (The Modern Language Association) Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi. "WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.." 08.January 2024 (2024), 133-137. Print. doi:10.24911/JBCGenetics/183-1696016763

APA (American Psychological Association) Style

Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi (2024) WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. , 08 (January 2024), 133-137. doi:10.24911/JBCGenetics/183-1696016763