% 0期刊文章%卡门Barba %英格玛·Blumcke %一个旋律r . Winawer %直到Hartlieb % Hoon-Chul Kang %一个马蒂尔德Chipaux劳拉Grisotto % %一个基督徒g .好% Barbora Heřmanovska %布伦达·e·波特%哈特G.W. Lidov %的瓦伦蒂娜Cetica %弗里德里希·g·Woermann %哈维尔·A·Lopez-Rivera %一个彼得·D·Canoll % Irina马德尔% D 'Incerti %鲁萨拉博尔达萨%一个艾哈迈德Gaballa杨德昌% %一个汉斯·沃格尔% Barbora Straka %一个莱蒂齐亚Macconi % Tilman垫状%杰拉尔德·A·格兰特% Lenka Krskova %一个回族金Shin % Ara Ko % Peter b . Crino %帕维尔Krsek %宋Ho李%一个丹尼斯Lal % Stephanie Baulac %安纳普尔纳峰Poduri %一个意甲首轮Guerrini % SLC35A2研究小组的代表% T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% D R 10.1212 / WNL 2023%。0000000000201471 % J首页神经病学% P e528-e542 % V 100% N 5% X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。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 %U //www.ez-admanager.com/content/neurology/100/5/e528.full.pdf