Neuroimmunology Group, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia; T.Y. Nelson Department of Neurology, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
Epilepsia. 2013 Dec;54(12):2091-100. doi: 10.1111/epi.12405. Epub 2013 Oct 23.
Potentially pathogenic autoantibodies are found increasingly in adults with seizure disorders, including focal seizures and those of unknown cause. In this study, we investigated a cohort of children with new-onset seizures to see whether there were autoantibodies and the relationship to any specific seizure or epilepsy type.
We prospectively recruited 114 children (2 months to 16 years) with new-onset seizures presenting between September 2009 and November 2011, as well as 65 controls. Patients were clinically assessed and classified according to the new International League Against Epilepsy (ILAE) organization of seizures and epilepsies classification system. Sera were tested for autoantibodies to a range of antigens, blind to the clinical and classification details.
Eleven (9.7%) of 114 patients were positive for one or more autoantibodies compared to 3 of 65 controls (4.6%, p = ns). Patients had antibodies to the voltage-gated potassium channel (VGKC) complex (n = 4), contactin-associated protein-like 2 (CASPR2) (n = 3), N-methyl-d-aspartate receptors (NMDARs) (n = 2), or VGKC-complex and NMDAR (n = 2). None had antibodies to glutamic acid decarboxylase, contactin-2, or to glycine, 2-amino-3-(3-hydroxy-5-methyl-4-isoxazolyl) propionic acid (AMPA), or γ-aminobutyric acid B receptors. Ten of these 11 patients were classified as having epilepsy according to the new ILAE organization of seizures and epilepsy. Although, there were no significant differences in the demographic and clinical features between antibody-positive and antibody-negative patients, the classification of "unknown cause" was higher in the antibody positive (7/10; 70%) compared with the antibody negative subjects (23/86; 26.7%; p = 0.0095, Fisher's exact test). Furthermore, four of these seven patients with epilepsy (57.1%) were classified as having predominantly focal seizures compared with 12 of the 86 antibody-negative patients (13.9%; p = 0.015).
Because autoantibodies were more frequent in pediatric patients with new-onset epilepsy of "unknown cause," often with focal epilepsy features, this group of children may benefit most from autoantibody screening and consideration of immune therapy.
越来越多的癫痫患者，包括局灶性癫痫和病因不明的癫痫患者，体内都发现了潜在的致病性自身抗体。在本研究中，我们对一组新发癫痫的儿童进行了调查，以了解是否存在自身抗体，以及与任何特定的癫痫发作或癫痫类型的关系。
我们前瞻性地招募了 114 名（2 个月至 16 岁）新发癫痫发作的儿童（2009 年 9 月至 2011 年 11 月期间就诊），以及 65 名对照者。根据新的国际抗癫痫联盟（ILAE）发作和癫痫分类系统对患者进行临床评估和分类。血清检测了针对一系列抗原的自身抗体，检测时对临床和分类细节不知情。
与 65 名对照组中的 3 名（4.6%，p=ns）相比，114 名患者中有 11 名（9.7%）存在一种或多种自身抗体。患者存在针对电压门控钾通道（VGKC）复合物（n=4）、接触蛋白相关蛋白样 2（CASPR2）（n=3）、N-甲基-D-天冬氨酸受体（NMDARs）（n=2）、VGKC 复合物和 NMDAR（n=2）的抗体。没有人对谷氨酸脱羧酶、接触蛋白-2 或甘氨酸、2-氨基-3-（3-羟基-5-甲基-4-异恶唑基）丙酸（AMPA）或γ-氨基丁酸 B 受体产生抗体。这 11 名患者中的 10 名根据新的 ILAE 发作和癫痫分类被归类为癫痫。尽管抗体阳性患者和抗体阴性患者在人口统计学和临床特征方面无显著差异，但在抗体阳性患者中，“病因不明”的分类更高（7/10；70%），而在抗体阴性患者中（23/86；26.7%）（p=0.0095，Fisher 确切检验）。此外，这 7 名癫痫患者中有 4 名（57.1%）被归类为主要局灶性癫痫发作，而 86 名抗体阴性患者中有 12 名（13.9%）（p=0.015）。
由于新发病的“病因不明”的癫痫患儿中自身抗体更为常见，且常伴有局灶性癫痫特征，因此这组患儿可能最受益于自身抗体筛查，并考虑免疫治疗。
