钾离子通道基因变异相关婴儿癫痫性脑病临床表型与基因变异特点分析

doi:10.3969/j.issn.1672-6731.2023.03.008

摘要/Abstract

摘要： 目的分析总结钾离子通道基因变异相关婴儿癫痫性脑病的临床和基因变异特点。方法与结果 采用第二代测序技术对2016 年7 月至2020 年1 月湖南省儿童医院收治的11 例钾离子通道基因变异相关癫痫性脑病患儿行基因检测，Sanger 测序验证变异类型其及来源。临床表型包括婴儿癫痫伴游走性局灶性发作（4 例）、大田原综合征（2 例）、婴儿痉挛症（2 例）和非特异性癫痫性脑病（3 例）；新发基因变异8/11 例、遗传变异3/11 例（均来自母亲）；变异类型为KCNQ2 基因变异（5 例）、KCNT1 基因变异（4 例）、KCNB1基因变异（2 例）。采取多种抗癫痫发作药物联合治疗，部分患儿辅助生酮饮食（3 例）。平均随访19 个月，3 例完全无发作、1 例有效、7 例无效，11 例均遗留智力发育迟缓和运动障碍。结论钾离子通道基因变异是婴儿癫痫性脑病的常见遗传性病因，可引起不同临床表型，基因检测可协助病因诊断，并为精准治疗提供依据。

关键词: 钾通道, 基因, 突变, 癫痫, 脑疾病, 婴儿

Abstract: Objective To analyze and summarize the potassium channel gene variation in infant epileptic encephalopathy (EE). Methods and Results A total of 11 infants with EE associated with potassium channel gene variation admitted to Hu'nan Children's Hospital from July 2016 to January 2020 were tested by the next generation sequencing (NGS). The variants and their sources were verified by Sanger sequencing. The clinical phenotype included epilepsy of infancy with migrating focal seizures (EIMFS, 4 cases), Ohtahara's syndrome (OS, 2 cases), infantile spasm (IS, 2 cases) and nonspecific EE (3 cases). There were 8 cases of new genetic variation and 3 cases of genetic variation (all from mothers). The variation types were KCNQ2 gene variation (5 cases), KCNT1 gene variation (4 cases) and KCNB1 gene variation (2 cases). Several antiepileptic seizure medicine (ASM) were used in combination therapy, and some of the infants were assisted with ketogenic diet (3 cases). After a mean follow-up of 19 months, 3 cases were completely free of seizures, one case was effective, 7 cases were ineffective, and 11 cases were all left with mental retardation and movement disorders. Conclusions Potassium channel gene variation is a common genetic cause of EE in infants, which can cause different clinical phenotypes. Genetic testing can assist in the etiological diagnosis and provide theoretical basis for precise treatment.

Key words: Potassium channels, Genes, Mutation, Epilepsy, Brain diseases, Infant

徐蓉, 宁泽淑, 康庆云, 陈波, 廖红梅, 杨理明, 吴丽文. 钾离子通道基因变异相关婴儿癫痫性脑病临床表型与基因变异特点分析[J]. 中国现代神经疾病杂志, 2023, 23(3): 196-204.

XU Rong, NING Ze-shu, KANG Qing-yun, CHEN Bo, LIAO Hong-mei, YANG Li-ming, WU. Analysis of clinical phenotype and gene variation characteristics of potassium channel gene variation in infants with epileptic encephalopathy[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(3): 196-204.

http://journal11.magtechjournal.com/cjcnn/CN/Y2023/V23/I3/196

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2 钾离子通道基因变异相关婴儿癫痫性脑病临床表型与基因变异特点分析

Analysis of clinical phenotype and gene variation characteristics of potassium channel gene variation in infants with epileptic encephalopathy

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2 钾离子通道基因变异相关婴儿癫痫性脑病临床表型与基因变异特点分析

Analysis of clinical phenotype and gene variation characteristics of potassium channel gene variation in infants with epileptic encephalopathy

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