KCNQ3基因异常相关的家族性皮质肌阵挛性震颤癫痫一家系分析并文献复习  

KCNQ3 gene mutation-associated familial cortical myoclonic tremor and epilepsy:A family case report and literature review

作　　者：王芳 王碧[1] 王晓丽 郭未艳 刘永红[1] WANG Fang;WANG Bi;WANG Xiaoli(Department of Neurology,Xijing Hospital,Air Force Military Medical University,Xi’an 710032,China)

机构地区：[1]空军军医大学西京医院神经内科,陕西西安710032 [2]西安市第一医院老年神经内科,陕西西安710002 [3]西安市第一医院药剂科,陕西西安710002

出　　处：《中风与神经疾病杂志》2024年第8期735-740,共6页Journal of Apoplexy and Nervous Diseases

基　　金：国家重点研发计划(2022YFC2503806);国家自然科学基金(82372033);陕西省重点研发计划(2023-YBSF-199)。

摘　　要：目的分析家族性皮质肌阵挛性震颤癫痫(FCMTE)患者的临床表现、电生理及遗传特点,进行文献复习并探讨潜在的致病基因。方法对1例FCMTE患者及其家系的临床表现、神经电生理及二代全外显子基因检测等结果进行分析。结果先证者为女性,72岁,因“间断双上肢抖动30余年,四肢抽搐13年”在空军军医大学第一附属医院西京医院神经内科就诊。体感诱发电位检查发现巨大电位,视频脑电图检查发作期可见各导多量7~8 Hz的尖波节律夹杂快波,确诊为FCMTE,给予丙戊酸钠治疗后症状基本消失。患者家系中三代均有发病。行二代全外显子测序显示在GFAP基因和KCNQ3基因外显子区域发现一处杂合突变点,并进一步分析2个变异对蛋白稳定性的影响,发现对GFAP基因编码蛋白的空间结构及对KCNQ3基因编码蛋白的空间结构未见明显影响。结论FCMTE符合常染色体显性遗传模式,成年起病,震颤伴或不伴癫痫发作。KCNQ3基因异常可能参与FCMTE的发病。Objective To study the clinical,electrophysiological,and genetic characteristics of familial cortical myoclonic tremor and epilepsy(FCMTE),and to review relevant literature for the potential pathogenic genes of the disease.Methods We analyzed the clinical presentations and neuroelectrophysiological and second-generation whole exome gene sequencing results of a patient with FCMTE and her family members.Results The 72-year-old female proband complained of paroxysmal tremor of the upper limbs for more than 30 years and convulsions of the upper and lower limbs for 13 years.The somatosensory evoked potential test showed large potentials.Video electroencephalography detected a pattern of sharp waves with fast waves at 7-8 Hz during attacks.She was diagnosed as FCMTE.The symptoms almost disappeared after treatment with sodium valproate.The condition occurred across the three successive generations of the family.Nextgeneration whole exome sequencing detected a heterozygous mutation each in the exon region of the GFAP gene and KCNQ3 gene.Protein stability analysis found that the two variants had no significant effects on the spatial structures of the proteins encoded by the GFAP gene and KCNQ3 gene.Conclusion FCMTE features an autosomal dominant inheritance pattern,and presents in adulthood with tremor and/or epileptic seizures.KCNQ3 mutations may be implicated in the pathogenesis of this disease.

关 键 词：常染色体显性遗传 癫痫 震颤 电生理 KCNQ3基因 GFAP基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]