TY -的T1 GABAa受体抗体与癫痫,癫痫持续状态,并删除从突触受体(P3.001) JF -神经学乔-神经学六世- 82 - 10补充SP - P3.001盟Mar小盟-泰国人Armangue盟小雨彭AU -丽贝卡·戴维斯AU -林赛McCracken盟-丽塔Balice-Go首页rdon AU -弗朗西斯克格劳盟约瑟Dalmau Y1 - 2014/04/08 UR - //www.ez-admanager.com/content/82/10_Supplement/P3.001.abstract N2 -目的:报告小说综合症与GABAa受体的识别(GABAaR)抗体和病人的抗体对神经元的影响文化。背景:有证据表明,癫痫发作和癫痫持续状态可以从突触自身免疫结果。GABAaR没有先前报道为自身免疫的目标。方法:140例的血清或脑脊液脑炎、癫痫发作和癫痫持续状态,未知抗原的抗体对抗原特征选择。技术包括免疫沉淀反应、质谱分析、细胞分析(CBA),抗体的影响分析的基础上培养的大鼠海马神经元。七十五正常受试者和416名患者从几个组织疾病作为控制。结果:神经细胞表面免疫沉淀反应显示GABAaR序列。CBAα1和/或β3 GABAaR的子单元显示high-titer血清抗体(在1:160)和脑脊液抗体在6/140的病人。所有6例(3 - 63岁,平均22;5男)开发了难治性癫痫持续状态/ epilepsia partialis连续连同广泛cortical-subcortical MRI异常; four patients required pharmacologically-induced coma. Twelve/416 patients from disease-group controls, but none of the healthy group, had low-titer GABAaR antibodies only in serum, 5 along with GAD65 antibodies. These 12 patients (2-74 year, median 26.5; 7 male) developed a broader spectrum of symptoms likely reflecting coexisting autoimmunities: 6 had encephalitis with seizures (1 with status epilepticus/pharmacological coma; 1 epilepsia partialis continua), 4 stiff-person syndrome (1 with seizures), and 2 opsoclonus-myoclonus. Overall, 12/15 assessable patients had full (3) or partial (9) response to treatment, and three died. Patient’s antibodies caused a selective reduction of GABAaR clusters at synapses, but not along dendrites, without altering gephyrin (a protein that anchors GABAaR). Conclusions: High-titer GABAaR antibodies associate with a severe form of encephalitis with seizures and/or refractory status epilepticus. The antibodies cause a selective reduction of synaptic GABAaR. The disorder frequently occurs with gabaergic and other co-existing autoimmunities and is potentially treatable. Study Supported by Instituto Carlos III, FI12/00366, FIS PI11/01780, and PI12/00611, and the National Institutes of Health RO1NS077851, MH094741 and Fundació la Marató TV3 (101530)Disclosure: Dr. Petit has nothing to disclose. Dr. Armangue has nothing to disclose. Dr. Peng has nothing to disclose. Dr. Davis has nothing to disclose. Dr. McCracken has nothing to disclose. Dr. Balice-Gordon has received personal compensation for activities with Pfizer, Inc. as an employee. Dr. Graus has nothing to disclose. Dr. Dalmau has received personal compensation in an editorial capacity for Up To Date. Dr. Dalmau has received royalty payments from Athena Diagnostics. Dr. Dalmau has received research support from Euroimmun.Tuesday, April 29 2014, 3:00 pm-6:30 pm ER -