@article {Barbae528作者={卡门Barba英格玛·Blumcke和旋律r . Winawer直到Hartlieb Hoon-Chul康和劳拉Grisotto马蒂尔德Chipaux和基督教好和Barbora他{\ v r} manovsk{\ '}和布伦达·e·波特和哈特G.W. Lidov和瓦伦蒂娜Cetica和弗里德里希·g . Woermann哈维尔·a·Lopez-Rivera和彼得·D·Canoll Irina马德尔和多维D {\ textquoteright} Incerti和莎拉博尔达萨杨德昌和艾哈迈德Gaballa和汉斯·沃格尔Barbora Straka和莱蒂齐亚Macconi Tilman垫状和杰拉尔德·a·格兰特Lenka Krskov{\ '},回族金Shin Ara Ko和Peter b . Crino帕维尔Krsek和宋Ho·李和丹尼斯·拉尔和圣{\ ' e} phanie Baulac和安纳普尔纳峰Poduri和意甲首轮Guerrini代表SLC35A2研究小组},title ={临床特征、神经病理学、难治性癫痫患者的手术结果和大脑SLC35A2基因的体细胞变异},体积={100}={5},页面= {e528——e542} = {2023}, doi = {10.1212 / WNL。出版商0000000000201471}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景和目标SLC35A2基因位于染色体Xp11.23,编码一个尿苷二磷酸{\ 首页textendash}半乳糖运输车。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50 \ %的DR-FE。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(9.5 \ %)在坐标系删除/复制,和1(2.4 \ %)剪接变体。变异等位基因频率(VAFs)范围从1.4 \ % 52.6 \ %(意味着VAF: 17.3 13.5 {\ textpm})。最后随访(35.5 {\ textpm} 21.5个月),30例(63.8 \ %)恩格尔类,其中26 IA(55.3 \ %)在类。在大多数病人手术后认知性能保持不变。 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}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/100/5/e528}, eprint = {//www.ez-admanager.com/content/100/5/e528.full.pdf}, journal = {Neurology} }