Can SCN1A mutations account for SUDEP?

Nabbout R (2008) Can SCN1A mutations account for SUDEP? – Commentary on Hindocha et al.. Epilepsia 49:2 367–8.

Link to Article

Abstract: First Paragraph: The standardized mortality ratio (SMR; the ratio of ob-served number of deaths in a population to that expected,based on age and sex-specific mortality rates in a referencepopulation) in population-based studies of epilepsy is 2–3.This increased mortality is largely related to the etiology ofthe epilepsy. Most fatalities in patients with chronic, ther-apy resistant epilepsy seem to be seizure-related and oftensudden unexpected deaths (SUDEP).

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Context

• Discusses Dravet syndrome, in which ∼75% of patients have SCN1A mutations and there is a high risk of SUDEP, and comments on SCN1A mutations as a potential cause of bradycardia in some patients, but concludes that SCN1A is highly unlikely to cause SUDEP in adult patients.

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