| 摘要: |
| ［摘要］ 目的 分析21例不明原因新生儿惊厥的临床表型及基因变异特点。方法 回顾性分析2018年9月至2024年10月新乡医学院第一附属医院新生儿科和洛阳市妇幼保健院新生儿科收治的21例不明原因新生儿惊厥患儿的临床资料。分析其血串联质谱、尿气相色谱-质谱和全外显子基因检测结果，并对患儿的临床转归进行总结。结果 21例患儿中男7例，女14例，均以惊厥为首发表现，血串联质谱及尿气相色谱-质谱均无异常，头颅磁共振成像（MRI）提示无异常或异常结果无特异性。24 h视频脑电图结果均表现异常，主要为尖波、棘波及慢波，少数表现为爆发-抑制。21例患儿基因检测结果均为阳性，由KCNQ2、KCNQ3和SCN2A基因变异所致的良性家族性新生儿惊厥7例，由KCNA2、KCNQ2、CNPY3、ATP6V1A以及MT-ND3基因变异所致的发育性癫痫性脑病12例，2例KCNQ2基因变异者因失访未能明确临床表型。随访截至2025年4月，失访2例，死亡7例（均为发育性癫痫性脑病患儿）。结论 基因检测有助于判断新生儿惊厥预后。该研究发现CNPY3基因及ATP6V1A基因变异所致发育性癫痫性脑病，丰富了疾病基因谱。 |
| 关键词: 新生儿 惊厥 基因检测 变异 预后 |
| DOI：10.3969/j.issn.1674-3806.2025.10.14 |
| 分类号: |
| 基金项目:新乡医学院第一附属医院博士科研启动基金（编号：xyyfy2019BS-005） |
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| Analysis on clinical phenotypes and genetic variations of 21 pediatric patients with neonatal seizures of unknown causes |
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CUI Qingyang1, ZHAO Haihai1, WANG Weiwei1, LI Zhenzhen1, SHANG Yun1, SUN Yazhou1, HUANG Shuixia2
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1.Department of Neonatology, the First Affiliated Hospital of Xinxiang Medical University, Xinxiang 453100, China; 2.Department of Neonatology, Luoyang Maternal and Child Health Hospital, Luoyang 471099, China
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| Abstract: |
| ［Abstract］ Objective To analyze the clinical phenotypes and genetic variation characteristics of 21 pediatric patients with neonatal seizures of unknown causes. Methods A retrospective analysis was conducted on the clinical data of 21 pediatric patients with neonatal seizures of unknown causes who were admitted to Department of Neonatology, the First Affiliated Hospital of Xinxiang Medical University and Department of Neonatology, Luoyang Maternal and Child Health Hospital from September 2018 to October 2024. The results of blood tandem mass spectrometry, urine gas chromatography-mass spectrometry and whole exome gene detection were analyzed, and the clinical outcomes of the pediatric patients were summarized. Results In the 21 pediatric patients, 7 pediatric patients were male and 14 pediatric patients were female. All of the pediatric patients presented with seizures as the initial manifestation. There were no abnormalities in the blood tandem mass spectrometry and urine gas chromatography-mass spectrometry. Head magnetic resonance imaging(MRI) indicated that there were no abnormalities or the abnormal results were not specific. The results of 24-hour video electroencephalography(EEG) in all the pediatric patients showed abnormalities, mainly including sharp waves, spike waves and slow waves, with a few abnormalities showing burst-inhibition. The genetic testing results in the 21 pediatric patients were positive. There were 7 cases of benign familial neonatal seizures caused by variations in KCNQ2, KCNQ3 and SCN2A genes, and 12 cases of developmental and epileptic encephalopathies caused by variations in KCNA2, KCNQ2, CNPY3, ATP6V1A and MT-ND3 genes. Two pediatric patients with variations in KCNQ2 gene were lost to follow-up and their clinical phenotypes could not be determined. The follow-up was conducted until April 2025. Two pediatric patients were lost to follow up. Seven pediatric patients died, all of whom were pediatric patients with developmental and epileptic encephalopathies. Conclusion Genetic testing is helpful for judging the prognosis of neonatal seizures. This study reveals that variations in CNPY3 and ATP6V1A genes lead to developmental and epileptic encephalopathies, which enriches the disease gene spectrum. |
| Key words: Neonates Seizures Genetic testing Variations Prognosis |
