Cornejo-Sanchez Diana M, Carrizosa-Moog Jaime, Cabrera-Hemer Dagoberto, Solarte-Mila Rodrigo, Gomez-Castillo Christhian, Thomas Rhys, Leal Suzanne M, Cornejo-Ochoa William, Pineda-Trujillo Nicolas
1 Grupo Mapeo Genético, Facultad de Medicina, Universidad de Antioquia, Medellin-Colombia.
2 Grupo Pediaciencias, Facultad de Medicina, Universidad de Antioquia, Medellín, Antioquia, Colombia.
J Child Neurol. 2019 Aug;34(9):491-498. doi: 10.1177/0883073819842422. Epub 2019 Apr 23.
Sleep deprivation commonly increases seizure frequency in patients with genetic generalized epilepsy, though it is unknown whether there is an increased prevalence of sleepwalking or sleep paralysis in genetic generalized epilepsy patients. Establishing this could provide insights into the bio-mechanisms or genetic architecture of both disorders. The aim of this study was to determine the prevalence of sleepwalking and sleep paralysis in a cohort of patients with genetic generalized epilepsy and their relatives in extended families.
A structured interview based on International League Against Epilepsy (ILAE) and International Classification of Sleep Disorders (ICSD-3) criteria was applied to 67 index cases and their relatives to determine genetic generalized epilepsy subtypes and assess the occurrence of sleepwalking or sleep paralysis. Bivariate analysis was performed using chi-square and Fisher exact tests.
The prevalence of sleepwalking and sleep paralysis was 15.3% (95% confidence interval 12.1-18.9) and 11.7% (95% confidence interval 8.7-15.3), respectively. Unusually, no sleepwalkers were found among individuals displaying epilepsy with generalized tonic-clonic seizures. Approximately a quarter of the patients had either parasomnia or genetic generalized epilepsy. Over half the genetic generalized epilepsy families had at least 1 individual with sleepwalking, and more than 40% of the families had one individual with sleep paralysis.
The prevalence of sleepwalking or sleep paralysis is reported for individuals with genetic generalized epilepsy and their relatives. The co-existence of either parasomnia in the genetic generalized epilepsy patients and the co-aggregation within their families let suggest that shared heritability and pathophysiological mechanisms exist between these disorders. We hypothesize that sleepwalking/sleep paralysis and genetic generalized epilepsy could be variable expression of genes in shared pathways.
睡眠剥夺通常会增加遗传性全身性癫痫患者的癫痫发作频率，不过目前尚不清楚遗传性全身性癫痫患者中梦游症或睡眠瘫痪症的患病率是否有所增加。确定这一点有助于深入了解这两种疾病的生物机制或遗传结构。本研究的目的是确定一组遗传性全身性癫痫患者及其大家庭亲属中梦游症和睡眠瘫痪症的患病率。
根据国际抗癫痫联盟（ILAE）和国际睡眠障碍分类（ICSD - 3）标准，对67例索引病例及其亲属进行结构化访谈，以确定遗传性全身性癫痫的亚型，并评估梦游症或睡眠瘫痪症的发生情况。使用卡方检验和Fisher精确检验进行双变量分析。
梦游症和睡眠瘫痪症的患病率分别为15.3%（95%置信区间12.1 - 18.9）和11.7%（95%置信区间8.7 - 15.3）。不同寻常的是，在表现为全身强直阵挛性发作的癫痫患者中未发现梦游者。约四分之一的患者患有异态睡眠或遗传性全身性癫痫。超过一半的遗传性全身性癫痫家族中至少有1人患有梦游症，超过40%的家族中有1人患有睡眠瘫痪症。
报告了遗传性全身性癫痫患者及其亲属中梦游症或睡眠瘫痪症的患病率。遗传性全身性癫痫患者中异态睡眠的共存及其家族内的共同聚集表明，这些疾病之间存在共同的遗传力和病理生理机制。我们推测，梦游症/睡眠瘫痪症和遗传性全身性癫痫可能是共享通路中基因的可变表达。
