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Abstract：
We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of mitochondrial glutamate/H+ symporter SLC25A22. Epilepsy began during the first week of life with focal onset seizures. Interictal EEG revealed a suppression-burst pattern with extensive periods of non-activity. The prospective follow-up confirmed developmental encephalopathy as well as ongoing active epilepsy and almost no sign of development at 8 years of age. We confirm in the following paper that SLC25A22 recessive variations may cause a severe developmental and epileptic encephalopathy characterized by a suppression-burst pattern. On the basis of an in-depth literature review, we also provide an overview of this rare genetic cause of neonatal onset epilepsy.
摘要：
我们描述了临床，脑电图（EEG），以及由于线粒体谷氨酸/H转运体SLC25A22的纯合致病变异而患有发育性和癫痫性脑病的患者的发育特征。癫痫始于生命的第一周，并伴有局灶性发作性癫痫发作。发作间脑电图显示出抑制爆发模式，并具有广泛的非活动期。前瞻性随访证实了发育性脑病以及持续的活动性癫痫，并且在8岁时几乎没有发展迹象。我们在以下论文中证实，SLC25A22隐性变异可能会导致严重的发育性和癫痫性脑病，其特征是抑制爆发模式。在深入文献综述的基础上,我们还概述了这种罕见的新生儿癫痫发作的遗传原因。
