Dravet综合征3例临床及分子遗传学研究

目的 分析研究Dravet综合征的临床和分子遗传学特点,以期提高对本病的早期诊断。方法 总结分析3例临床疑似Dravet综合征患儿的临床资料,辅助检查特点,应用NGS测序方法一次性检测OMIM数据库中与癫痫相关基因,并采用PCR和Sanger测序法对结果进行验证。结果 临床特点:3例患者均有癫痫持续状态经历,以阵挛发作为主,均于1岁以内发病,其中2例患儿首次发作表现为热性惊厥,3例患儿头颅影像学检查均无异常,1例患儿动态脑电图有轻度异常,3例患儿均对抗癫痫药物治疗反应差;基因型特点:3例患儿均检测到SCN1A基因的杂合突变,其中1例同时检测出GPR98基因突变,结合父母验证结果,3例患儿均为新发突变。结论 Dravet综合征早期多以热性惊厥起病,多有癫痫持续状态,形式以阵挛发作为主,辅助检查多无阳性发现,基因检测有助于早期确诊。

Clinical characteristics and molecular genetics of three patients with Dravet syndrome.

Objective To study the clinical data of three patients with Dravet syndrome and explore the genetic defects in this disease to get an early diagnosis. Methods The clinical information of three Dravet syndrome children were collected.Next generation sequencing (NGS) method was applied to detect OMIM database genes associated with epilepsy,PCR and Sanger sequencing method were used to validate the results. Results Clinical features:all 3 cases were onset during the first year of life with status epilepticus,the main form of seizures was elonns,and were difficult to control with anti-epileptic drugs,2 cases were onset associated with febrile seizures;All 3 cases of children with normal head MRI,1 case with abnormal EEG.Genotype features:3 cases were detected SCN1A gene heterozygous mutations,and 1 case was detected GPR 98 gene mutations at the same time,verification results showed 3 cases were new mutations should compared with parents. Conclusions Dravet syndrome is an epileptic encephalopathy and onset with febrile seizures,always status epilepticus,the main form of seizures is elonns.Examinations are always normal.Early diagnosis can make with genetic testing.