title: Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP.
abstract: To ascertain the cause of mortality and incidence of sudden unexpected death in epilepsy (SUDEP) in patients with supernumerary isodicentric chromosome 15 (idic15).
  
  
  
  Cases were obtained from those reported to the Dup15q Alliance (www.dup15q.org) between April 2006 and June 2012; ~709 families were registered in their database. We performed a case-control study comparing reported SUDEP cases to living patients with epilepsy from the Dup15q Alliance registry who volunteered to be interviewed to examine clinical risk factors.
  
  
  
  There were nineteen deaths with idic15; 17 had epilepsy, and nine deaths were due to probable or definite SUDEP (4 females, median age of death was 13.5years, range: 3-26years). Possible SUDEP occurred in 2 others. The remainder died from status epilepticus (3), pneumonia (3), aspiration (1), and drowning (1). Nonambulatory status and lack of seizure control were more common among SUDEP cases than living dup15q patients.
  
  
  
  Our findings suggest that SUDEP is a common cause of death among children and young adults with isodicentric chromosome 15q11.2q13 duplications and patients with the most severe neurologic dysfunction may be at highest risk. Further studies are needed to examine if this specific genetic defect plays a role in the mechanism of SUDEP in these patients.
authors.affiliation: Department of Neurology, NYU Langone School of Medicine, New York, NY, United States. Electronic address: Daniel.friedman@nyumc.org.
authors.forename: Daniel
authors.initials: D
authors.lastname: Friedman
authors.affiliation: Department of Neurology, NYU Langone School of Medicine, New York, NY, United States.
authors.forename: Alison
authors.initials: A
authors.lastname: Thaler
authors.affiliation: Department of Neurology, NYU Langone School of Medicine, New York, NY, United States.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Thaler
authors.affiliation: Department of Neurology, NYU Langone School of Medicine, New York, NY, United States.
authors.forename: Samhitha
authors.initials: S
authors.lastname: Rai
authors.affiliation: Department of Psychiatry, University of Illinois at Chicago College of Medicine, Chicago, IL, United States.
authors.forename: Edwin
authors.initials: E
authors.lastname: Cook
authors.affiliation: Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, DE, United States.
authors.forename: Carolyn
authors.initials: C
authors.lastname: Schanen
authors.affiliation: Department of Neurology, NYU Langone School of Medicine, New York, NY, United States.
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use; D016022:Case-Control Studies; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics* / Q000401:mortality*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D015331:Cohort Studies; D003645:Death, Sudden; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D012042:Registries; D012189:Retrospective Studies; D012307:Risk Factors; D012640:Seizures / Q000188:drug therapy / Q000209:etiology / Q000401:mortality; D055815:Young Adult
chemical_list: D000927:Anticonvulsants
keywords: Epilepsy; Lennox–Gastaut syndrome; SUDEP; idic15