COMMENTARY

SUDEP: Is It in the Genes?

Andrew N. Wilner, MD

Disclosures

December 03, 2014

Sudden Unexpected Death in Epilepsy

Years ago at an American Epilepsy Society meeting, I chatted with the mother of a teenage boy who had tragically died of sudden unexpected death in epilepsy (SUDEP). She wept as she lamented, "If only I had known that this could happen! I never heard of SUDEP!"

In those days, SUDEP wasn't much discussed in neurology clinic. Many neurologists believed that given the lack of ability to predict and prevent SUDEP, a discussion merely raised anxieties without offering solutions or solace to patients and their families. Although that situation has not materially changed, SUDEP has "come out of the shadows" and is now a well-recognized topic for discussion between neurologists and their patients and an active area of research.[1] At least three SUDEP clinical trials are currently recruiting patients.

SUDEP is defined as "sudden, unexpected, witnessed or unwitnessed, nontraumatic and nondrowning death in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus where postmortem examination does not reveal a cause for death."[2] SUDEP affects approximately 1 in 500 people with epilepsy and accounts for 17% of epilepsy-related deaths.[3] The cause of SUDEP remains unknown, although autonomic instability that affects cardiac or respiratory function, or irreversible "cerebral electrical shutdown" owing to epileptic activity, rank high among the proposed etiologies.[4]

Risk Factors for SUDEP

Many possible risk factors for SUDEP have been identified, including being in bed, early age of epilepsy onset, frequent seizures, generalized tonic/clonic seizures, long duration of seizure disorder, low antiepileptic drug levels, male sex, nocturnal seizures, polytherapy, and young age (20-45 years).[3] However, only a few patients with these risk factors die of SUDEP; most others are spared. Individual susceptibility to these risk factors on the basis of genetic variation is one possible explanation for the inconsistent effect of observable risk factors.

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