title: Dravet syndrome--considerable delay in making the diagnosis.
abstract: OBJECTIVE
  To assess delay in diagnosis and clinical characteristics of Dravet syndrome based on the Dravet register at The National Centre for Epilepsy in Norway.
  
  
  METHODS
  Medical records of patients diagnosed with Dravet syndrome since 2007 were analysed.
  
  
  RESULTS
  Twenty-two patients were identified. In 15, genetic screening disclosed mutations/deletions in the SCN1A gene. Average time from seizure onset to diagnosis was 7.4 years. Mean age at seizure onset was 6.7 months, nine had hemiconvulsions and 13 had generalized tonic-clonic seizures. The seizures were precipitated by fever in 17, by external heating in three. During second year of life, multiple seizure types and cognitive and motoric stagnation occurred. No patients became seizure-free with antiepileptic drugs. The effect of vagal nerve stimulation was disappointing.
  
  
  CONCLUSIONS
  By making an early diagnosis, an extensive presurgical evaluation may be avoided, and the patient and their parents may be offered genetic guidance.
authors: Division of Surgery and Neuroscience, National Centre for Epilepsy, Oslo University Hospital, Norway. anna.bremer@vestreviken.no
authors: A
authors: A
authors: Bremer
authors: M I
authors: MI
authors: Lossius
authors: K O
authors: KO
authors: Nakken
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis / Q000517:prevention & control / Q000706:statistics & numerical data* / Q000639:trends*; D003937:Diagnosis, Differential; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human