Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.,Developmental Medicine & Child Neurology

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Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.
Developmental Medicine & Child Neurology ( IF 3.8 ) Pub Date : 2023-11-13 , DOI: 10.1111/dmcn.15803
Yi Chen ₁ , Aijie Liu ₂ , Xiaoli Zhang ₃ , Xiuwei Ma ₄ , Dan Sun ₅ , Xiaojuan Tian ₆ , Wenjuan Wu ₇ , Qi Zeng ₈ , Yuwu Jiang ₁ , Yuehua Zhang ₁

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AIM To investigate the seizure course of PCDH19 clustering epilepsy (PCDH19-CE) in a cohort of female children in China. METHOD 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. INTERPRETATION 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.

更新日期：2023-11-13

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