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

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

doi:10.24911/JBCGenetics/183-1696016763

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Case Report
Online Published: 08 Jan 2024

JBCGenetics. 2023; 6(2): 133-137

doi: 10.24911/JBCGenetics/183-1696016763

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

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

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.

Key words: WWOX, epileptic encephalopathy, DEE28, WOREE syndrome.

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Pubmed Style

Al-Lawati M, Al-Khaldi Z, Chettali AM, Al-Hinai M, Al-Mazrooey H, Al-Ajmi A, Al-Harasi S, Al-Hashmi N. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBCGenetics. 2023; 6(2): 133-137. doi:10.24911/JBCGenetics/183-1696016763

Web Style

Al-Lawati M, Al-Khaldi Z, Chettali AM, Al-Hinai M, Al-Mazrooey H, Al-Ajmi A, Al-Harasi S, Al-Hashmi N. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. https://www.jbcgenetics.com/?mno=171401 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1696016763

AMA (American Medical Association) Style

Al-Lawati M, Al-Khaldi Z, Chettali AM, Al-Hinai M, Al-Mazrooey H, Al-Ajmi A, Al-Harasi S, Al-Hashmi N. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBCGenetics. 2023; 6(2): 133-137. doi:10.24911/JBCGenetics/183-1696016763

Vancouver/ICMJE Style

Al-Lawati M, Al-Khaldi Z, Chettali AM, Al-Hinai M, Al-Mazrooey H, Al-Ajmi A, Al-Harasi S, Al-Hashmi N. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBCGenetics. (2023), [cited November 14, 2024]; 6(2): 133-137. doi:10.24911/JBCGenetics/183-1696016763

Harvard Style

Al-Lawati, M., Al-Khaldi, . Z., Chettali, . A. M., Al-Hinai, . M., Al-Mazrooey, . H., Al-Ajmi, . A., Al-Harasi, . S. & Al-Hashmi, . N. (2023) WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. JBCGenetics, 6 (2), 133-137. doi:10.24911/JBCGenetics/183-1696016763

Turabian Style

Al-Lawati, Moosa, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, and Nadia Al-Hashmi. 2023. WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. Journal of Biochemical and Clinical Genetics, 6 (2), 133-137. doi:10.24911/JBCGenetics/183-1696016763

Chicago Style

Al-Lawati, Moosa, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, and Nadia Al-Hashmi. "WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.." Journal of Biochemical and Clinical Genetics 6 (2023), 133-137. doi:10.24911/JBCGenetics/183-1696016763

MLA (The Modern Language Association) Style

Al-Lawati, Moosa, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, and Nadia Al-Hashmi. "WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.." Journal of Biochemical and Clinical Genetics 6.2 (2023), 133-137. Print. doi:10.24911/JBCGenetics/183-1696016763

APA (American Psychological Association) Style

Al-Lawati, M., Al-Khaldi, . Z., Chettali, . A. M., Al-Hinai, . M., Al-Mazrooey, . H., Al-Ajmi, . A., Al-Harasi, . S. & Al-Hashmi, . N. (2023) WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.. Journal of Biochemical and Clinical Genetics, 6 (2), 133-137. doi:10.24911/JBCGenetics/183-1696016763

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