关键词: Dravet综合征, SCN1A基因, 基因突变

Abstract: 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.

Key words: Dravet syndrome, voltage-gated sodium channel α1-subunit gene, gene mutation