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伴有独特的独立双侧颞叶起始发作性心搏停止的GAD65抗体相关自身免疫性癫痫

GAD65 antibody-associated autoimmune epilepsy with unique independent bitemporal-onset ictal asystole.

作者信息

D'Souza Caitlin E, Feyissa Anteneh M

机构信息

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

出版信息

Epileptic Disord. 2018 Jun 1;20(3):204-208. doi: 10.1684/epd.2018.0971.

DOI:10.1684/epd.2018.0971
PMID:29905150
Abstract

Antibodies against the 65-kDa isoform of the intracellular enzyme, glutamate decarboxylase (GAD65), have been found in patients with limbic encephalitis and drug-resistant autoimmune epilepsy. We report a 22-year-old female who presented with new-onset seizures and neuropsychiatric symptoms. Video-EEG captured unique, independent bitemporal-onset focal seizures with impaired awareness and ictal asystole. An autoimmune epilepsy panel revealed elevated GAD65 antibodies in the serum (225 nmol/l) and CSF (2.78 nmol/l), while [F]-fluoro-deoxy-glucose positron emission tomography showed bitemporal hypometabolism (left > right). The patient was diagnosed with GAD65 antibody-associated autoimmune epilepsy. Our observation adds to the spectrum of neurocardiac syndromes associated with autoimmune epilepsy.

摘要

在边缘性脑炎和耐药性自身免疫性癫痫患者中发现了针对细胞内酶谷氨酸脱羧酶65 kDa亚型(GAD65)的抗体。我们报告了一名22岁女性,她出现了新发癫痫和神经精神症状。视频脑电图记录到独特的、独立的双侧颞叶起始局灶性癫痫发作,伴有意识障碍和发作期心脏停搏。自身免疫性癫痫检测显示血清(225 nmol/l)和脑脊液(2.78 nmol/l)中GAD65抗体升高,而[F] - 氟脱氧葡萄糖正电子发射断层扫描显示双侧颞叶代谢减低(左侧>右侧)。该患者被诊断为GAD65抗体相关的自身免疫性癫痫。我们的观察结果扩展了与自身免疫性癫痫相关的神经心脏综合征的范围。

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引用本文的文献

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Neurol Sci. 2025 Jun;46(6):2765-2777. doi: 10.1007/s10072-024-07933-7. Epub 2024 Dec 20.
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Sudden unexpected death in epilepsy and ictal asystole in patients with autoimmune encephalitis: a systematic review.自身免疫性脑炎患者癫痫发作中猝死和癫痫发作性心搏停止:系统评价。
Neurol Sci. 2024 Jun;45(6):2811-2823. doi: 10.1007/s10072-023-07280-z. Epub 2024 Jan 9.
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Autoimmune Epilepsy - Novel Multidisciplinary Analysis, Discoveries and Insights.
自身免疫性癫痫 - 新的多学科分析、发现和见解。
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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.癫痫性猝死遗传学的系统评价:与心源性猝死和心律失常相关基因的潜在重叠。
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