Anastasescu Catalina Mihaela, Gheorman Veronica, Godeanu Simona Viorica, Cojocaru Adriana, Iliuta Floris Petru, Stepan Mioara Desdemona, Gheorman Victor
Children's Mental Health Center, Hospital of Neuropsychiatry Craiova, 200349 Craiova, Romania.
Department of Medical Semiology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Life (Basel). 2025 Mar 19;15(3):497. doi: 10.3390/life15030497.
Pathogenic variants in the gene are associated with a broad neurodevelopmental phenotype, including autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. However, the role of in specific epileptic syndromes remains insufficiently explored. We present the case of an 11.9-year-old Romanian girl diagnosed with ASD, attention-deficit/hyperactivity disorder (ADHD), mild ID, and Jeavons syndrome (generalized epilepsy characterized by eyelid myoclonia, absence seizures, and photosensitivity). Genetic testing identified a pathogenic variant: c.1882C>T (p.Arg628*), a pathogenic variant rarely reported in the literature, with only two documented cases to date. To better understand the genotype-phenotype correlation, we conducted a systematic review of -associated disorders and compared our findings with previously reported cases. Our analysis suggests that variants may contribute to a broader spectrum of epileptic syndromes, including photosensitive epilepsy such as Jeavons syndrome. This highlights the need for a greater awareness of atypical seizure presentations in individuals with -related disorders. This study underscores the importance of genetic testing in individuals with overlapping ASD and epilepsy phenotypes as early diagnosis may facilitate targeted therapeutic interventions and genetic counseling. Further research is needed to clarify the molecular mechanisms linking dysfunction to epileptic syndromes and neurodevelopmental disorders.
该基因的致病变异与广泛的神经发育表型相关，包括自闭症谱系障碍（ASD）、智力障碍（ID）和癫痫。然而，其在特定癫痫综合征中的作用仍未得到充分探索。我们报告了一名11.9岁的罗马尼亚女孩的病例，她被诊断患有ASD、注意力缺陷多动障碍（ADHD）、轻度ID和Jeavons综合征（一种以眼睑肌阵挛、失神发作和光敏性为特征的全身性癫痫）。基因检测发现了一个致病变异：c.1882C>T（p.Arg628*），这是文献中很少报道的致病变异，迄今为止仅有两例记录在案。为了更好地理解基因型与表型的相关性，我们对与该基因相关的疾病进行了系统综述，并将我们的发现与先前报道的病例进行了比较。我们的分析表明，该基因变异可能导致更广泛的癫痫综合征，包括如Jeavons综合征这样的光敏性癫痫。这凸显了对于患有该基因相关疾病的个体中非典型癫痫表现提高认识必要性。这项研究强调了对患有重叠ASD和癫痫表型的个体进行基因检测的重要性，因为早期诊断可能有助于进行有针对性的治疗干预和遗传咨询。需要进一步的研究来阐明将该基因功能障碍与癫痫综合征和神经发育障碍联系起来的分子机制。
