Mortality in Dravet syndrome

Epilepsy Res. 2016 Dec;128:43-47. doi: 10.1016/j.eplepsyres.2016.10.006. Epub 2016 Oct 26.

Abstract

We measured the mortality rate and the rate of Sudden Unexpected Death in Epilepsy (SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited, unrelated patients with DS; 87 had SCN1A mutations. Living cases had a median follow-up of 17 years. Seventeen patients died, at a median age of seven years (inter-quartile range 3-11 years) with causes of death: 10 SUDEP, four status epilepticus, two drowning and one asphyxia. The SUDEP classification included three Definite, one Definite Plus and six Probable. The Dravet-specific mortality rate/1000-person-years was 15.84 (98% CI 9.01-27.85). The Dravet-specific SUDEP rate was 9.32/1000-person-years (98% CI 4.46-19.45). The Dravet-specific SUDEP rate is the only documented syndrome-specific SUDEP rate. SUDEP in DS occurs mainly in childhood. It is also the highest SUDEP rate, considerably higher than the recent 5.1 SUDEP rate/1000-person-years for adults with refractory epilepsy.

Keywords: Dravet syndrome; Epilepsy; Mortality; Sudden unexpected death in epilepsy.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Death, Sudden / epidemiology*
  • Death, Sudden / etiology
  • Epilepsies, Myoclonic / genetics
  • Epilepsies, Myoclonic / mortality*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Kaplan-Meier Estimate
  • Male
  • Mutation
  • NAV1.1 Voltage-Gated Sodium Channel / genetics
  • Young Adult

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • SCN1A protein, human