Key result
A novel SCN1A mutation in a GEFS+ family was associated with a sudden unexpected death in epilepsy incidence of 7 per 1,000 person-years (95% CI 1-25).
Population
13 clinically affected individuals in a family with Generalized epilepsy with febrile seizures plus and a…
Design
Case_series
Follow-up
288 person-years
Authors
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May heighten SUDEP vigilance in SCN1A-GEFS+ families; leaves open mutation-specific causality.
Case Report (n=13)
This report identifies a high incidence of SUDEP in a GEFS+ family with a novel SCN1A mutation, suggesting a potential genetic susceptibility to sudden death in this epilepsy syndrome.
Hindocha et al. (2008) conducted a case report in Generalized epilepsy with febrile seizures plus (GEFS+) (n=13). SCN1A mutation (5600T>C, I1867T) was evaluated on Incidence of sudden unexpected death in epilepsy (SUDEP) (95% CI 1-25). A novel SCN1A mutation in a GEFS+ family was associated with a sudden unexpected death in epilepsy incidence of 7 per 1,000 person-years (95% CI 1-25).
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