Abstract：
OBJECTIVE: To investigate the seizure course of PCDH19 clustering epilepsy (PCDH19-CE) in a cohort of female children in China.
METHODS: This ambidirectional cohort study examined 113 female patients with PCDH19-CE through multicentre collaboration. Prognostic factors for seizure freedom were evaluated by multivariate Cox regression analysis.
RESULTS: The median seizure course period from seizure onset was 6 years 6 months. Of 113 patients, 78% and 56% experienced seizure freedom for at least 1 year and at least 2 years respectively. In patients younger than 5 years (n = 30), 5 to 10 years (n = 52), and older than 10 years (n = 31), 57%, 81%, and 94% experienced at least 1 year of seizure freedom, and 32%, 52%, and 84% experienced at least 2 years of seizure freedom, respectively. However, 58% (65 out of 113) relapsed at least once after more than 1 year of seizure freedom without trigger exposure (40%) or because of common triggers, including fever (43%) and antiseizure medication (ASM) reduction (29%). There was an 84% risk of seizure relapse after ASM reduction attempts. The likelihood of seizure freedom decreased with early age at seizure onset and developmental delay.
CONCLUSIONS: Patients with PCDH19-CE exhibit increasing seizure freedom with age, but there is a risk of relapse. ASM reduction in children younger than 10 years old requires caution. Patients with early seizure onset and developmental delay have a reduced chance of seizure freedom.
CONCLUSIONS: The seizure freedom rate in PCDH19 clustering epilepsy gradually increases with age. The disease course is characterized by relapsing-remitting seizures. Antiseizure medication reduction requires caution for patients younger than 10 years of age. Patients with early seizure onset and developmental delay are less likely to achieve seizure freedom.
METHODS: This ambidirectional cohort study examined 113 female patients with PCDH19-CE through multicentre collaboration. Prognostic factors for seizure freedom were evaluated by multivariate Cox regression analysis.
RESULTS: The median seizure course period from seizure onset was 6 years 6 months. Of 113 patients, 78% and 56% experienced seizure freedom for at least 1 year and at least 2 years respectively. In patients younger than 5 years (n = 30), 5 to 10 years (n = 52), and older than 10 years (n = 31), 57%, 81%, and 94% experienced at least 1 year of seizure freedom, and 32%, 52%, and 84% experienced at least 2 years of seizure freedom, respectively. However, 58% (65 out of 113) relapsed at least once after more than 1 year of seizure freedom without trigger exposure (40%) or because of common triggers, including fever (43%) and antiseizure medication (ASM) reduction (29%). There was an 84% risk of seizure relapse after ASM reduction attempts. The likelihood of seizure freedom decreased with early age at seizure onset and developmental delay.
CONCLUSIONS: Patients with PCDH19-CE exhibit increasing seizure freedom with age, but there is a risk of relapse. ASM reduction in children younger than 10 years old requires caution. Patients with early seizure onset and developmental delay have a reduced chance of seizure freedom.
CONCLUSIONS: The seizure freedom rate in PCDH19 clustering epilepsy gradually increases with age. The disease course is characterized by relapsing-remitting seizures. Antiseizure medication reduction requires caution for patients younger than 10 years of age. Patients with early seizure onset and developmental delay are less likely to achieve seizure freedom.
摘要：
目的：调查中国女性儿童PCDH19聚集性癫痫（PCDH19-CE）的发作过程。
方法：这项双向队列研究通过多中心合作检查了113例PCDH19-CE女性患者。多因素Cox回归分析评估癫痫发作的预后因素。
结果：从癫痫发作开始的中位癫痫发作病程为6年6个月。113名患者中,78%和56%的人分别经历了至少1年和至少2年的癫痫发作自由。在小于5岁的患者中（n=30），5至10年（n=52），年龄超过10岁（n=31），57%,81%,94%的人经历了至少一年的癫痫发作自由，32%,52%,84%的人经历了至少2年的癫痫发作自由，分别。然而,58％（113个中的65个）在没有触发暴露的情况下癫痫发作超过1年后至少复发一次（40％）或由于常见的触发因素，包括发烧（43％）和抗癫痫药物（ASM）减少（29％）。在ASM减少尝试后，癫痫发作复发的风险为84％。癫痫发作和发育迟缓时，癫痫发作自由的可能性随着年龄的增长而降低。
结论：PCDH19-CE患者的癫痫发作自由度随着年龄的增长而增加，但有复发的风险.10岁以下儿童的ASM减少需要谨慎。早期癫痫发作和发育迟缓的患者癫痫发作自由的机会减少。
方法：这项双向队列研究通过多中心合作检查了113例PCDH19-CE女性患者。多因素Cox回归分析评估癫痫发作的预后因素。
结果：从癫痫发作开始的中位癫痫发作病程为6年6个月。113名患者中,78%和56%的人分别经历了至少1年和至少2年的癫痫发作自由。在小于5岁的患者中（n=30），5至10年（n=52），年龄超过10岁（n=31），57%,81%,94%的人经历了至少一年的癫痫发作自由，32%,52%,84%的人经历了至少2年的癫痫发作自由，分别。然而,58％（113个中的65个）在没有触发暴露的情况下癫痫发作超过1年后至少复发一次（40％）或由于常见的触发因素，包括发烧（43％）和抗癫痫药物（ASM）减少（29％）。在ASM减少尝试后，癫痫发作复发的风险为84％。癫痫发作和发育迟缓时，癫痫发作自由的可能性随着年龄的增长而降低。
结论：PCDH19-CE患者的癫痫发作自由度随着年龄的增长而增加，但有复发的风险.10岁以下儿童的ASM减少需要谨慎。早期癫痫发作和发育迟缓的患者癫痫发作自由的机会减少。
