Original article

Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome

Corresponding Author

Raidah Al Baradie

[email protected]

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

Correspondence: Raidah Al Baradie Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Ammar Bin Thabit Street, Dammam – 31444, Saudi Arabia <[email protected]>Search for more papers by this author

Ali Mir,

Ali Mir

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Ali Alsaif,

Ali Alsaif

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Mona Ali,

Mona Ali

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Fouad Al Ghamdi,

Fouad Al Ghamdi

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Shahid Bashir,

Shahid Bashir

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Yousef Howsawi,

Yousef Howsawi

Genetic and metabolic department, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Raidah Al Baradie,

Corresponding Author

Raidah Al Baradie

[email protected]

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

Ali Mir,

Ali Mir

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Ali Alsaif,

Ali Alsaif

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Mona Ali,

Mona Ali

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Fouad Al Ghamdi,

Fouad Al Ghamdi

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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Shahid Bashir,

Shahid Bashir

Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

Search for more papers by this author

Yousef Howsawi,

Yousef Howsawi

Genetic and metabolic department, King Fahad Specialist Hospital, Dammam, Saudi Arabia

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First published: 25 August 2022

https://doi.org/10.1684/epd.2022.1444

Citations: 2

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Abstract

Objective. Epileptic encephalopathy (EE) is difficult to diagnose and manage. It can be caused by a variety of disorders, and its aetiology may guide management and prognosis. The human gene for WW domain-containing oxidoreductase (WWOX) has been associated with epileptic encephalopathy, which presents in infancy with seizures, psychomotor delay, microcephaly, and optic atrophy.

Methods. We report nine patients with WWOX-related EE from six families. We provide detailed descriptions of clinical presentations, imaging findings, neurophysiological manifestations, and related mutations. Whole-exome sequencing (WES) was used to identify the mutations in the WWOX gene.

Results. We established correlations between genotype and phenotype in our cases and previously reported cases.

Significance. Our data support previously reported findings regarding WWOX-related EE, indicating the importance of the human WWOX gene in brain development and the association between WWOX mutations and EE. Our study also highlights the power of WES, particularly in clinically challenging cases.

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Volume24, Issue4

August 2022

Pages 697-712

Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome

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Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome

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