AI Article Synopsis
- The study investigates the causes of death and instances of sudden unexpected death in epilepsy (SUDEP) specifically in patients with supernumerary isodicentric chromosome 15 (idic15).
- The researchers analyzed data from the Dup15q Alliance, comparing reported SUDEP cases to living patients with epilepsy to identify clinical risk factors.
- Findings revealed that SUDEP was a leading cause of death in this population, particularly among those with severe neurological impairments, highlighting the need for further research on the genetic factors influencing SUDEP risk.
Article Abstract
Purpose: To ascertain the cause of mortality and incidence of sudden unexpected death in epilepsy (SUDEP) in patients with supernumerary isodicentric chromosome 15 (idic15).
Methods: 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.
Key Findings: 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.
Significance: 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.
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| http://dx.doi.org/10.1016/j.yebeh.2016.04.001 | DOI Listing |
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