Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Ming Shiuan SohRichard D BagnallMark F BennettLauren E BleakleyErlina S Mohamed SyazwanA Marie PhillipsMathew D F ChiamChaseley E McKenzieMichael HildebrandDouglas CromptonMelanie BahloChristopher SemsarianIngrid E SchefferSamuel Frank BerkovicChristopher A ReidPublished in: Annals of clinical and translational neurology (2021)
These data show that loss-of-function KCNH2 variants are enriched in SUDEP patients when compared to an epilepsy population older than 50 years, suggesting that cardiac mechanisms contribute to SUDEP risk. We propose that genetic screening in combination with functional analysis can identify loss-of-function KCNH2 variants that could act as biomarkers of an individual's SUDEP risk.