Defining the Seizure Course of PCDH19 Clustering Epilepsy
Abstract number :
1.235
Submission category :
4. Clinical Epilepsy / 4D. Prognosis
Year :
2022
Submission ID :
2204100
Source :
www.aesnet.org
Presentation date :
12/3/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:23 AM
Authors :
Yi Chen, MMed – Peking University First Hospital; miaomiao Cheng, MD – Pediatrics – Peking University First Hospital; Ying Yang, PhD – Pediatrics – Peking University First Hospital; Aijie Liu, PhD – Pediatric Neurology – Capital Institute of Pediatrics; Xiaoli Zhang, MD – Pediatrics – The Third Affiliated Hospital of Zheng Zhou University; Xiuwei Ma, MD – Neurology – Bayi Children’s Hospital, General Military Hospital of Beijing; Dan Sun, Prof. – Neurology – Wuhan Children's Hospital; Xiaojing Xu, PhD – Pediatrics – Peking University First Hospital; Xiaojuan Tian, MD – Neurology – Beijing Children’s Hospital, Capital Medical University; Wenjuan Wu, Dr – Neurology – Hebei Children’s Hospital; Qi Zeng, PhD – Neurology – Shenzhen Children’s Hospital; Xueyang Niu, PhD – Pediatrics – Peking University First Hospital; Xiaoling Yang, PhD – Pediatrics – Peking University First Hospital; Zhixian Yang, Prof. – Pediatrics – Peking University First Hospital; Tianming Jia, Prof. – Pediatrics – The Third Affiliated Hospital of Zheng Zhou University; Qian Chen, Prof. – Pediatric Neurology – Capital Institute of Pediatrics; Yuwu Jiang, Prof. – Pediatrics – Peking University First Hospital; Yuehua Zhang, Prof. – Pediatrics – Peking University First Hospital
Rationale: PCDH19 is one of the most common causative genes in developmental and epileptic encephalopathies. The clinical features of PCDH19 clustering epilepsy (PCDH19-CE) were mainly infantile-onset cluster seizures with fever sensitivity, accompanied by intellectual disability. Due to limited data availability, the evolution of the seizure course of PCDH19-CE and its affecting factors still need clarification. We aim to systematically study the seizure course of PCDH19-CE in a Chinese cohort.
Methods: An ambidirectional cohort study of PCDH19-CE patients was conducted through a multicenter collaboration in China between October 2007 and November 2021. Initially, 128 patients were collected, six were excluded due to insufficient course duration ( < 1 year). Clinical data were collected from outpatient visits and medical records and patients were followed up by regular outpatient visits or telephone calls. Multiple seizure-free periods with or without subsequent recurrence were recorded. Seizure-free was defined when no seizure were observed for ≥1 year. Any subsequent seizure following a seizure-free was defined as seizure recurrence. Univariate and multivariate logistic analyses were used to find cofactors associated with seizure-free period ≥1 year.
Results: Our cohort included 122 patients (113 females and 9 mosaic males). The median age at the last follow-up was 7.4 years (range, 1.6-25 years), and the median follow-up period from seizure onset was 6.4 years (range, 1.2-24.3 years). Ninety patients (74%) experienced seizure-free for ≥ 1 year and 63 patients (52%) for ≥ 2 years. Moreover, 51% (18/35), 76% (42/55), and 94% (30/32) of patients aged < 5, 5-10, and ≥ 10 years at last follow-up experienced seizure-free for ≥ 1 year, and 26% (9/35), 49% (27/55) and 84% (27/32) experienced seizure-free for ≥ 2 years. Multivariate regression analysis revealed that only the later seizure onset age (odds ratio 1.43 [95% CI, 1.20-1.70] per month, p< 0.001) and the older age at last follow-up (odds ratio 1.27 [95% CI, 1.05-1.52] per year, p=0.013) were protective factors for seizure-free. However, for patients who experienced seizure-free for ≥1 year, 73% (66/90) experienced seizure recurrence. The common triggers for seizure recurrence included fever and anti-seizure medications (ASMs) reduction. In total, 22 patients had 25 attempts of ASM reduction (19 patients, 1 attempt; 3 patients, 2 attempts), after at least a seizure-free period of 2 years. The risk of seizure recurrence after attempts of ASMs reduction was 84% (21/25). Furthermore, 95% (18/19) attempts of ASMs reduction in patients under 10 years of age ended up in seizure recurrence.
Clinical Epilepsy