Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia
Genetic and metabolic department, King Fahad Specialist Hospital, Dammam, Saudi Arabia
Epileptic Disord. 2022 Aug 1;24(4):697-712. doi: 10.1684/epd.2022.1444.
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.
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.
We established correlations between genotype and phenotype in our cases and previously reported cases.
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.
癫痫性脑病（EE）的诊断和治疗较为困难。它可能由多种疾病引起，其病因可能指导治疗和预后。含 WW 结构域的氧化还原酶（WWOX）的人类基因与癫痫性脑病有关，其在婴儿期表现为癫痫发作、精神运动发育迟缓、小头畸形和视神经萎缩。
我们报道了来自 6 个家系的 9 例 WWOX 相关 EE 患者。我们详细描述了临床表现、影像学表现、神经生理学表现和相关突变。全外显子组测序（WES）用于鉴定 WWOX 基因中的突变。
我们在本病例和以前报道的病例中建立了基因型与表型之间的相关性。
我们的数据支持以前关于 WWOX 相关 EE 的发现，表明人类 WWOX 基因在大脑发育中的重要性以及 WWOX 突变与 EE 的关联。我们的研究还突出了 WES 的强大功能，特别是在临床挑战性病例中。
