From the Department of Neurology and Neurological Sciences, Stanford University, CA.
Neurology. 2024 Oct 8;103(7):e209790. doi: 10.1212/WNL.0000000000209790. Epub 2024 Sep 9.
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.
睡眠相关运动性癫痫（SHE），以前称为夜间额叶癫痫，其特征是短暂（<2 分钟）发作，发作突然开始和结束，以刻板的局灶性或全身性运动性事件为主（但并非完全）发生在睡眠中。临床上，SHE 很难与心因性非癫痫事件或睡眠障碍区分开来。多达 30%的 SHE 病例对抗癫痫药物耐药，而 SHE 约占耐药性手术性癫痫病例的 10%。尽管大多数病例的病因不明，但有一部分个体的 n-乙酰胆碱受体（nAChR）亚基存在致病性变异。此外，一些具有 nAChR 变异的个体对尼古丁有反应。我们报告了一例 23 岁男性患有 SHE，但检测未发现致病性变异，其癫痫发作对尼古丁贴片的去除和应用非常敏感。这表明在 SHE 个体中，尼古丁抑制癫痫发作可能存在另一种机制。
