RT期刊文章SR电子T1临床特征、神经病理学、难治性癫痫患者的手术结果和大脑的体细胞变异SLC35A2基因摩根富林明神首页经病学神经学乔FD Lippincott Williams &威尔金斯SP e528 OP e542 10.1212 / WNL。100签证官0000000000201471是5 A1卡门Barba A1英格玛·Blumcke A1旋律r . Winawer A1直到Hartlieb A1 Hoon-Chul Kang A1劳拉Grisotto A1马蒂尔德Chipaux A1基督教g .好A1 Barbora Heřmanovska A1布伦达·e·波特A1哈特G.W. Lidov A1瓦伦蒂娜Cetica A1弗里德里希·g·Woermann A1哈维尔·a·Lopez-Rivera A1彼得D Canoll A1 Irina马德尔A1多维D 'Incerti A1莎拉博尔达萨A1杨德昌A1 Ahmed Gaballa A1汉斯·沃格尔A1 Barbora Straka A1莱蒂齐亚Macconi A1 Tilman垫状A1杰拉尔德·a·格兰特A1 Lenka Krskova A1回族金Shin A1 Ara Ko A1 Peter b . Crino A1帕维尔Krsek A1宋Ho李A1丹尼斯Lal A1斯蒂芬妮Baulac A1安纳普尔纳峰Poduri A1左伦Guerrini A1代表SLC35A2研究小组2023年UL //www.ez-admanager.com/content/100/5/e528.abstract AB背景和目标SLC35A2基因位于染色体Xp11.23,编码一个尿苷diphosphate-galactose运输车。首页我们描述临床、遗传、神经影像学、脑电图和病理结果和评估可能的预测术后癫痫发作和认知结果在47个难治性癫痫患者和大脑躯体SLC35A2基因变异。方法这是一个回顾性多中心研究,我们进行了描述性分析和古典假设检验。我们包括兴趣显著相关的变量广义线性模型的结果。结果两个主要表型与大脑有关体细胞SLC35A2变体:(1)早期癫痫性脑病(EE, 39名患者)与癫痫痉挛主要发作类型和中度到重度智力障碍和(2)耐药局灶性癫痫(DR-FE 8例)与正常/边缘认知功能和特定的神经缺陷。大脑MRI异常在所有患者EE和那些DR-FE的50%。皮质的组织病理学检查发现轻度畸形发展oligodendroglial增生在44/47的癫痫患者,3是不确定的。47名患者存在42独特的马赛克SLC35A2变异,包括14(33.3%)错义,13(30.9%)转移,10(23.8%)胡说,4例(9.5%)高帧删除/复制和1(2.4%)剪接变体。变异等位基因频率(VAFs)从1.4%到52.6%不等(平均VAF: 17.3±13.5)。最后随访(35.5±21.5个月),30例(63.8%)在恩格尔类,其中26(55.3%)在IA班。 Cognitive performances remained unchanged in most patients after surgery. Regression analyses showed that the probability of achieving both Engel Class IA and Class I outcomes, adjusted by age at seizure onset, was lower when the duration of epilepsy increased and higher when postoperative EEG was normal or improved. Lower brain VAF was associated with improved postoperative cognitive outcome in the analysis of associations, but this finding was not confirmed in regression analyses.Discussion Brain somatic SLC35A2 gene variants are associated with 2 main clinical phenotypes, EE and DR-FE, and a histopathologic diagnosis of MOGHE. Additional studies will be needed to delineate any possible correlation between specific genetic variants, mutational load in the epileptogenic tissue, and surgical outcomes.ASM=antiseizure medication; CV-LFB=cresyl violet-Luxol fast blue; DR-FE=drug-resistant focal epilepsy; EE=epileptic encephalopathy; FCD=focal cortical dysplasia; ID=intellectual disability; IED=interictal epileptiform discharge; mMCD=mild malformation of cortical development; MOCHE=mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy; VAF=variant allele frequency