生殖医学杂志2025，Vol.34Issue(11)：1487-1492,6.DOI:10.3969/j.issn.1004-3845.2025.11.006
13例SCN1A基因变异所致的相关癫痫患儿临床特征与治疗结果分析
Analysis of clinical characteristics and treatment results of 13 children with epilepsy caused by SCN1A gene variation
摘要
Abstract
Objectives:To analyze the genotypes,clinical characteristics and treatment results of 13 children with epilepsy caused by SCN1A gene variation. Methods:This study retrospectively included 13 children with epilepsy who visited Gansu Provincial Maternity and Child Health Hospital(Gansu Provincial Central Hospital)from January 2019 to July 2024.Genetic testing was performed through whole exome sequencing combined with Sanger sequencing verification.The pathogenicity of the variation was determined in accordance with the Genetic Variation Classification Criteria and Guidelines issued by the American College of Medical Genetics and Genomics(ACMG).The individualized antiepileptic drug combination therapy strategy was used for the treatment.The main drugs included sodium valproate,levetiracetam and clobazan,etc.For refractory cases,ketogenic diet therapy was added.The diagnosis and treatment as well as the pedigree data of the patients were recorded. Results:The SCN1A gene detected in 13 children belonged to 13 different gene variants,including three nonsense variants,two frame-shift variants and eight missense variants,five of which were unreported new variants.Six of these 13 variants had pathogenicity ratings as pathogenic variants and seven were suspected pathogenic variants.After treatment with one to eight anti-seizure medications,two cases were completely controlled by treatment,five cases improved,and six cases failed. Conclusions:This study enriched the SCN1A gene variation database,and provided some basic data for intervention treatment,genetic counseling and fertility guidance for patients with SCN1A gene variation in the local area.关键词
癫痫/基因变异/基因诊断/干预治疗/遗传咨询Key words
Epilepsy/Genetic variation/Genetic diagnosis/Intervention therapy/Genetic counseling分类
临床医学引用本文复制引用
张钏,郝胜菊,曹蕾,沈子涵,惠玲,周秉博,王红雁,田芯瑗,马盼盼,郑雷,王玉佩..13例SCN1A基因变异所致的相关癫痫患儿临床特征与治疗结果分析[J].生殖医学杂志,2025,34(11):1487-1492,6.基金项目
甘肃省科技计划资助项目(22YF7FA094) （22YF7FA094）
甘肃省卫生健康行业科技创新重大科研项目(GSWSQNPY2025-19) （GSWSQNPY2025-19）
甘肃省卫生行业计划项目(GSWSKY2022-33) （GSWSKY2022-33）
甘肃省科技厅创新基地及人才计划(21JR7RA680) （21JR7RA680）
医院科研基金项目资助(GMCCH2024-2-2,GMCCH2025-2-3-08) （GMCCH2024-2-2,GMCCH2025-2-3-08）
