DEPDC5基因突变相关的癫痫综合征的诊治分析  

Mutations of DEPDC 5 cause variable epileptic syndromes in three families

作　　者：龙绮婷 张玮[1] 张翠荣 尚丽 柴英 冯亚梅 龚德山 刘兴洲 LONG Qiting;ZHANG Wei;ZHANG Cuirong(Neurology of Beijing Tsinghua Changgung Hospital,Tsinghua University Affiliated,Beijing(102218),China)

机构地区：[1]清华大学附属北京清华长庚医院神经内科,北京102218 [2]上海德济医院癫痫中心

出　　处：《癫痫与神经电生理学杂志》2021年第1期17-24,共8页Journal of Epileptology and Electroneurophysiology(China)

摘　　要：目的DEPDC5(Dishevelled,EGL-10 and Pleckstrin Domain Containing 5),该片段为编码蛋白的一组基因,本文分析DEPDC5基因突变相关癫痫综合征的临床-电生理、影像学和基因学等,提高临床上对此癫痫综合征的认识及鉴别诊断能力。方法总结2017年至2019年就诊于上海德济医院的3个DEPDC5基因突变家系的临床-电生理、结构及功能影像学、基因学和病理等结果。结果DEPDC5基因突变的3个家系中,A家系先证者有癫痫家族史,家族中各患者的发作类型不一,符合家族性多变局灶性癫痫;B家系先证者也有癫痫家族史,另一个患者发作类型与先证者不同,先证者除癫痫发作外还伴有孤独症样表现;C家系先证者有2种发作类型,家族中存在携带者。3个家系的先证者结构功能成像均存在异常。高通量全外显子测序对3个家系中共9例进行全外显子检测,其中携带DEPDC5基因突变者6例,有癫痫发作者4例,外显率为67%。3个家系的先证者均行颅内电极植入确定致痫区并行病灶切除,术后至今1~2年无发作。结论DEPDC5基因突变的相关癫痫综合征有多种,为常染色体显性遗传,其遗传特点存在不完全外显,临床表现为家族性多变局灶性癫痫、家族性颞叶内侧癫痫、常染色体显性遗传夜间额叶癫痫、常染色体显性遗传癫痫并听觉障碍、婴儿痉挛和良性癫痫伴中央颞区棘波等。大多数患者的精神运动发育正常,部分患者可存在轻度认知功能下降或孤独症样表现。Objective To analyze the clinical neurophysiological characteristics,radiology,mutations of DEPDC5 gene related epileptic syndromes,to improve the diagnosis of epileptic syndromes.Methods The clinical neurophysiology,magnetic resonance imaging,PET scan,genetic features and pathologic findings were recorded in three families with DEPDC5 related epileptic syndromes in Shanghai Deji Hospital.Results A and B families was in conformity with the definition of familial focal epilepsy with variable foci,while the proband of B family also had autistic disorder,and the proband of C family had spasm seizures at the onset.The probands of these families were found a heterozygous mutation in DEPDC5 genes exon 22 through high throughput sequencing.Penetrance was 67%in the three families.The probands had the epileptogenic zone resection and were seizure free for one to two years until now.Conclusion The clinical presentations of DEPDC5 gene mutation related epileptic syndromes are variable,depending on the type of syndromes.Most of the psychomotor development of the patients are normal,but some may have mild cognitive impairment,or autistic disorder.

关 键 词：DEPDC5基因 癫痫综合征 不完全外显 家族性多变局灶性癫痫 致痫区切除 

分 类 号：R742.1[医药卫生—神经病学与精神病学]