New study highlights genetic link to SUDEP

Posted Oct 27 2015 in Brain science; genetics

A new study has offered an indication of the potential genetic basis of sudden unexpected death in epilepsy (SUDEP).

Led by University College London’s Institute of Neurology, the research aimed to elucidate the genetic underpinnings of the condition by analysing rare, protein-changing genetic variations among 18 people who died of SUDEP, 87 living people with epilepsy and 1,479 controls.

Association analysis published in the journal EBioMedicine revealed common genetic traits among the SUDEP patients, driven both by the number of variants per individual, and over-representation of damaging variants in the SUDEP cohort.

More than a thousand genes contributed to this genetic burden, with subsequent analysis revealing five possible candidate genes significantly associated with SUDEP or epilepsy, though no one single gene emerges as common to the SUDEP cases.

It was concluded that the study provides further evidence for a genetic susceptibility to SUDEP, with the presence or over-expression of certain genes increasing a person’s risk of the disease.

The researchers said: “Our findings suggest that exome sequencing in people with epilepsy might eventually contribute to generating SUDEP risk estimates, promoting stratified medicine in epilepsy, with the eventual aim of reducing an individual patient’s risk of SUDEP.”

Posted by Steve Long

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