Key result
Molecular autopsy in sudden unexpected death in epilepsy identified pathogenic or likely pathogenic variants in ion channel or arrhythmia-related genes with an approximately 11% discovery rate.
Why the study?
Sudden unexpected death in epilepsy shares many features with sudden cardiac death and sudden unexplained death in the young and may have a similar genetic contribution.
Does genetic analysis identify pathogenic variants in ion channel or arrhythmia-related genes in individuals with sudden unexpected death in epilepsy?
Systematic Review (n=161)
Does genetic analysis identify pathogenic variants in ion channel or arrhythmia-related genes in individuals with sudden unexpected death in epilepsy?
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Supports molecular autopsy in SUDEP cases; extends evidence for genetic overlap with sudden cardiac death.
Chahal et al. (2019) conducted a systematic review in Sudden unexpected death in epilepsy (SUDEP) (n=161). Molecular autopsy / genetic analysis was evaluated on Discovery rate of pathogenic or likely pathogenic variants in ion channel or arrhythmia-related genes. Molecular autopsy in sudden unexpected death in epilepsy identified pathogenic or likely pathogenic variants in ion channel or arrhythmia-related genes with an approximately 11% discovery rate.
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