André M-V, Cacciagli P, Cano A, Vaugier L, Roussel M, Girard N, Chabrol B, Villard L, Milh M
Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France.
Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France; Department of medical genetics, hôpital de La Timone, AP-HM, 13085 Marseille, France.
Arch Pediatr. 2021 Jan;28(1):87-92. doi: 10.1016/j.arcped.2020.10.015. Epub 2020 Dec 17.
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.
我们描述了一名因线粒体谷氨酸/氢离子同向转运体SLC25A22纯合致病性变异而患有发育性和癫痫性脑病患者的临床、脑电图（EEG）及发育特征。癫痫始于出生后第一周，发作形式为局灶性发作。发作间期脑电图显示为抑制-爆发模式，伴有广泛的无活动期。前瞻性随访证实该患者存在发育性脑病、持续性活动性癫痫，且8岁时几乎没有发育迹象。我们在后续论文中证实，SLC25A22隐性变异可能导致一种以抑制-爆发模式为特征的严重发育性和癫痫性脑病。基于深入的文献综述，我们还概述了这种新生儿期起病癫痫的罕见遗传病因。
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