SCN1A基因突变致遗传性癫痫伴热性惊厥附加症家系1例报告并文献复习  

GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS CAUSED BY SCN1A GENE MUTATION:A FAMILY REPORT AND LITERATURE REVIEW

作　　者：徐凯[1,2] 黄硕 朱海芳 孙妍萍[1] XU Kai;HUANG Shuo;ZHU Haifang;SUN Yanping(Department of Neurology,The Affiliated Hospital of Qingdao University,Qingdao 266003,China)

机构地区：[1]青岛大学附属医院神经内科,山东青岛266003 [2]青岛市黄岛区人民医院神经内科 [3]山东科技大学校医院

出　　处：《精准医学杂志》2023年第3期215-218,共4页Journal of Precision Medicine

基　　金：国家自然科学基金资助项目(82071453)。

摘　　要：目的 总结SCN1A基因突变所致遗传性癫痫伴热性惊厥附加症(generalized epilepsy with febrile seizures plus, GEFS+)的临床特点及治疗情况,以增加对SCN1A基因突变的认识,为该病的临床诊疗提供依据。方法 收集我院神经内科就诊的1例GEFS+患儿及其家族成员的临床资料,采用三代基因测序技术对患儿及其父母、表姑的外周血DNA进行遗传学分析及验证。结果 患儿,女,7岁,因“发作性抽搐4年余”入院,发作时伴有意识丧失,发热时易发作,应用奥卡西平后发作增多,服用丙戊酸钠后发作控制。患儿父亲有痫性发作史,患儿表姑无临床症状,三代基因测序技术显示患儿、其父亲及表姑均有SCN1A基因c.4787G>A(p.R1596H)同一杂合突变。结论 GEFS+患者的发病与SCN1A基因突变相关,但家系中患者的临床表现存在异质性,钠通道阻滞剂抗癫痫药物将加重GEFS+患者的痫性发作。Objective To summarize the clinical features and treatment of genetic epilepsy with febrile seizures plus(GEFS+)caused by SCN1A gene mutations,to improve the understanding of SCN1A gene mutations,and to provide a basis for the clinical diagnosis and treatment of this disease.Methods Clinical data were collected from a child with GEFS+and her family members who attended Department of Neurology in our hospital,and the third-generation gene sequencing technique was used to perform genetic analysis and validation of peripheral blood DNA of the child and her parents and aunt.Results A girl,aged 7 years,was admitted to the hospital due to"paroxysmal seizures lasting for more than 4 years",with loss of consciousness during seizures and more seizures during pyrexia.The seizures increased after the use of oxcarbazepine and were controlled after the admi-nistration of sodium valproate.Her father had a history of seizures,while her aunt had no clinical symptoms.Third-generation gene sequencing showed the same heterozygous mutation,c.4787G>A(p.R1596H),in the SCN1A gene in the child and her father and aunt.Conclusion The onset of GEFS+is associated with SCN1A gene mutations,but there is heterogeneity in clinical manifestations among patients in one family,and sodium channel blockers as anti-epileptic drugs will aggravate epileptic seizures in GEFS+.

关 键 词：惊厥 发热性 癫痫 突变 系谱 序列分析 RNA 病例报告 

分 类 号：R742.1[医药卫生—神经病学与精神病学]