Affiliations 1 Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China. 2 National Center for Neurological Disorders, Beijing, China. 3 Department of Pharmacy Phase I Clinical Trial Center, Xuanwu Hospital, Capital Medical University, Beijing, China. 4 Jinan Hospital of Xuanwu Hospital, Shandong First Medical University, Jinan, China. 5 Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen, China. 6 Department of Pediatrics, Central Hospital Affiliated to Shandong First Medical University, Jinan, China. 7 Department of Neurology, Affiliated Hospital of Nantong University, Nantong, China. 8 State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Institute of Neuroscience, Chinese Academy of Sciences Center for Excellence in Brain Science and Intelligence Technology, Shanghai, China.
Objective: CDKL5 deficiency disorder is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients. Methods: The study was a nationwide, cross-sectional survey on CDD patients in China . Detailed phenotypic and genotypic data were collected through an online questionnaire ...更多
Objective: CDKL5 deficiency disorder is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients. Methods: The study was a nationwide, cross-sectional survey on CDD patients in China . Detailed phenotypic and genotypic data were collected through an online questionnaire with uploaded original medical records, genetic testing results, and peri-fever seizure diaries. The primary outcome was changes in epileptic seizure frequency during and post-fever phases compared to a 1-month pre-fever phase based on seizure diaries. Results: Between October 2024 and December 2024, we received 131 questionnaires. Forty-seven questionnaires were removed after excluding duplicates and missing data. Ultimately, 84 eligible participants with complete uploads were included, from 26 of 34 province-level regions in China. Among these, 47 patients had significant decreased seizure frequency only during febrile episodes, and 27 patients with daily seizures achieved at least a seizure-free day. Notably, 20 patients exhibited post-fever seizure reduction: 12 for 3 days to 1 week, and 6 for more than 2 weeks . The effect was independent of patients' clinical and genetic characteristics. Interpretation: Our findings, for the first time, revealed that fever-related seizure reduction is a distinctive and prevalent genotype-phenotype for CDD, thereby providing evidence for further fundamental research into the underlying mechanisms and offering potential clinical implications for seizure control in CDD.收起
