WWOX
小头畸形
癫痫
癫痫痉挛
病因学
医学
精神运动学习
脑病
精神运动迟缓
生物信息学
儿科
生物
内科学
病理
精神科
癌症
认知
抑制器
替代医学
作者
Raidah Al Baradie,Ali Mir,Ali Alsaif,M. Yusuf Ali,Fouad Al Ghamdi,Shahid Bashir,Yousef Howsawi
标识
DOI:10.1684/epd.2022.1444
摘要
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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