title: Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
abstract: OBJECTIVE
  To summarize the early clinical features of Dravet syndrome (DS) patients with SCN1A gene mutations before the age of one.
  
  
  METHODS
  SCN1A gene mutation screening was performed by PCR-DNA sequencing and multiple ligation-dependent probe amplication (MLPA). The early clinical features of DS patients with SCN1A mutations were reviewed with attention to the seizures induced by fever and other precipitating factors before the first year of life.
  
  
  RESULTS
  The clinical data of 138 DS patients with SCN1A gene mutations were reviewed. The median seizure onset age was 5.3 months. Ninety-nine patients (71.7%) experienced seizures with duration more than 15 min in the first year of life. Two or more seizures induced by fever within 24h or the same febrile illness were observed in 93 patients (67.4%). 111 patients (80.4%) had hemi-clonic and (or) focal seizures. Seizures had been triggered by fever of low degree (T<38 °C) in 62.3% (86/138) before the first year of life. Vaccine-related seizures were observed in 34.8% (48/138). Seizures in 22.5% (31/138) of patients were triggered by hot bath. Carbamazepine, oxcarbazepine, lamotrigine, phenobarbital and phenytoin showed either no effect or exacerbating the seizures in our group.
  
  
  CONCLUSIONS
  The seizure onset age in DS patients was earlier than that was in common febrile seizures. When a baby exhibits two or more features of complex febrile seizures in the first year of life, a diagnosis of DS should be considered, and SCN1A gene mutation screening should be performed as early as possible. Early diagnosis of DS will help clinicians more effectively prescribe antiepileptic drugs for stronger prognosis.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China. Electronic address: zhangyhdr@126.com.
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Beijing Ji Shui Tan Hospital, China.
authors.forename: Huihui
authors.initials: H
authors.lastname: Sun
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Zhixian
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Jiong
authors.initials: J
authors.lastname: Qin
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, Peking University First Hospital, China.
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: D017668:Age of Onset; D000927:Anticonvulsants / Q000009:adverse effects; D002681:China; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D003294:Seizures, Febrile / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology* / Q000209:etiology
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Diagnosis; Dravet syndrome; Febrile seizures; Mutation; SCN1A gene