Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is characterized by brief (<2 minutes) seizures with abrupt onset and offset and stereotyped focal or generalized hypermotor events occurring predominantly (but not exclusively) from sleep. Clinically, SHE can be challenging to distinguish from psychogenic nonepileptic events or sleep disorders. Up to 30% of SHE cases are drug-resistant, and SHE represents about 10% of drug-resistant surgical epilepsy cases. Although most cases have an unknown etiology, there is a subset of individuals with pathogenic variants in the subunits of n-acetylcholine receptors (nAChR). Furthermore, some individuals with nAChR variants are responsive to nicotine. We report a case of a 23-year-old man with SHE, but no pathogenic variant on testing, whose seizures were exquisitely responsive to removal and application of a nicotine patch. This suggests an alternative mechanism of nicotine in the suppression of seizures in individuals with SHE.

中文翻译：

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珍珠和牡蛎：睡眠相关的过度运动性癫痫对尼古丁贴片的良好反应。


睡眠相关性过度运动性癫痫 (SHE)，以前称为夜间额叶癫痫，其特征是短暂（<2 分钟）癫痫发作，突然发作和偏移，以及主要（但不完全）在睡眠中发生的定型局灶性或全身性过度运动事件。在临床上，将 SHE 与心因性非癫痫事件或睡眠障碍区分开来可能具有挑战性。高达 30% 的 SHE 病例具有耐药性，SHE 约占耐药手术癫痫病例的 10%。尽管大多数病例的病因不明，但仍有一小部分个体的 n-乙酰胆碱受体 (nAChR) 亚基存在致病性变异。此外，一些携带 nAChR 变异的个体对尼古丁有反应。我们报告了一名患有 SHE 的 23 岁男性病例，但经检测未发现致病性变异，其癫痫发作对移除和使用尼古丁贴片非常敏感。这表明尼古丁抑制 SHE 患者癫痫发作的另一种机制。