| 刘 婕,王英燕,周昀箐,邹翔宇,王纪文.13例SCN2A 基因突变相关儿童神经系统疾病表型分析[J].,2022,(24):4648-4653 |
| 13例SCN2A 基因突变相关儿童神经系统疾病表型分析 |
| Phenotype of SCN2A Gene Mutation-related Neurological Diseases in Children of 13 Cases |
| 投稿时间：2022-06-23 修订日期：2022-07-18 |
| DOI：10.13241/j.cnki.pmb.2022.24.009 |
| 中文关键词: SCN2A突变 儿童 临床表型 |
| 英文关键词: SCN2A mutation Children Phenotype |
| 基金项目:国家自然科学基金项目（81900618） |
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| 中文摘要: |
| 摘要 目的：总结并分析SCN2A基因突变引起的儿童神经系统疾病相关表型谱特点。方法：采用回顾性研究，收集2018年6月至2021年6月在上海交通大学医学院附属上海儿童医学中心神经内科诊治的患儿，并经二代基因测序检测，纳入SCN2A基因突变者，研究并总结患儿神经系统临床表型特点。结果：共纳入13例SCN2A突变患儿,包括新生突变9例和遗传性突变4例。其中11例患儿伴有癫痫发作，发作年龄为1日龄~1岁11月龄，4例在新生儿期起病 （36%），1~3 月龄起病2例（18%），4~12月龄起病2例（18%），1岁后起病3例（27%）；发作类型中强直阵挛发作、痉挛发作、局灶性发作均各有4例（36%），阵挛发作1例（9%）。另有2例无癫痫发作的患儿，1例表现为全面性发育迟缓，另一例表现为发育迟缓合并孤独症谱系疾病。11例癫痫患儿中，丛集性发作患儿10例。遗传性突变4例患儿中2例智力、运动发育正常；9例新生突变的患儿中8例伴有运动、智力发育落后，1例发育正常。11例癫痫患儿表型中良性家族性新生儿癫痫1例，新生儿惊厥2例，婴儿痉挛症2例，不能分类的早发性癫痫性脑病3例，儿童期起病的癫痫性脑病2例，热厥附加症1例。结论：SCN2A基因突变引起的儿童神经系统疾病以癫痫表现居多、癫痫表型谱广，少数表现为不伴癫痫发作的发育迟缓和孤独症谱系疾病。 |
| 英文摘要: |
| ABSTRACT Objective: To analysis the spectrum of children neurological diseases caused by SCN2A gene mutation. Methods: Patients who were treated in the Neurology Department of Shanghai Children Medical Center from June 2018 to June 2021 and texted with SCN2A mutations by next-generation sequencing (NGS) were included. Results: There were 13 patients (9 boys and 4 girls) with SCN2A mutations were included. Totally 13 SCN2A mutations were identified. 9 patients had de novo mutations and 4 patients had mutations inherited from parents. There are 11 patients had epilepsy. The age of these children's epilepsy start was from 1 day to 1 years and 11 months. 4 children with seizure started in neonate period (36%), 2 children started between 1 month and 3 months of age (18%), and there were 3 children with seizure started beyond one year old (27%). For the seizure types: the focal seizure, spasm seizure and tonic-clonic seizure each were observed in 4 patients(36%), clonic seizure was observed in 1 patient. In addition, there were two children without seizures, one of them presented with generalized developmental delay and the other with developmental delay combined with autism spectrum disease. Two of four patients with inherited mutations had normal development; eight of nine patients with de novo mutations had abnormally development delay. In these 11 epilepsy children, one was diagnosed of benign familial infantile epilepsy, 2 had neonatal convulsion, 3 had encephalopathy with early infantile onset epilepsy, 2 had West syndrome and 1 had febrile seizures plus. There are 10 patients' seizures expressed in clusters. Conclusion: Epilepsy was the common neurological disease in children with SCN2A gene mutation. Epilepsy has a wide spectrum, and a few of them were detected of developmental delay and autism spectrum disorders without seizures. |
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