Mortality in Dravet syndrome.
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.
Department of Developmental Medicine, Royal Children's Hospital, Melbourne, Australia,; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia.
Monica S
MS
Cooper
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Australia; Melbourne Brain Centre, The Royal Melbourne Hospital, University of Melbourne, Australia.
Anne
A
Mcintosh
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neurology, Northern Health, Melbourne, Australia.
Douglas E
DE
Crompton
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Australia.
Jacinta M
JM
McMahon
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Australia.
Amy
A
Schneider
Division of Neurology, Department of Paediatrics, University of British Columbia, Child and Family Research Institute, Vancouver, Canada.
Kevin
K
Farrell
Department of Neurology, Great Ormond Street Hospital and Institute of Child Health, London, United Kingdom.
Vijeya
V
Ganesan
TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia.
Deepak
D
Gill
Institute of Pediatric Neurology, Schneider Children's Medical Centre of Israel, Petach Tikvah, Israel.
Sara
S
Kivity
Pediatric Neurology Unit, Wolfson Medical Centre, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Tally
T
Lerman-Sagie
Department of Paediatric Neurosciences, Royal Hospital For Sick Children, Edinburgh, United Kingdom.
Ailsa
A
McLellan
Paediatric Neurologist, Brisbane, Queensland, Australia.
James
J
Pelekanos
Department of Paediatric Neurology, Newcastle General Hospital, Newcastle Upon Tyne, United Kingdom.
Venkateswaran
V
Ramesh
Department of Paediatrics, Wellington Children's Hospital, New Zealand; University of Otago, Wellington, New Zealand.
Lynette
L
Sadleir
Division of Child and Adolescent Neurology and Epilepsy, Mayo Clinic, Rochester, MN, USA.
Elaine
E
Wirrell
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Australia; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Australia. Electronic address: scheffer@unimelb.edu.au.
Ingrid E
IE
Scheffer
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003645:Death, Sudden / Q000453:epidemiology* / Q000209:etiology; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000401:mortality*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D055815:Young Adult
D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
Dravet syndrome; Epilepsy; Mortality; Sudden unexpected death in epilepsy