Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review.
Satoshi SaitoSatoshi HosokiEriko YamaguchiHiroyuki IshiyamaSoichiro AbeTakeshi YoshimotoTomotaka TanakaYorito HattoriYi Chu LiaoYi-Chung LeeIkuko MizutaToshiki MizunoMasafumi IharaPublished in: Neurology. Genetics (2024)
Temporal pole infarcts could represent a blended phenotype of both variants. This case highlights the importance of large and small artery crosstalk and the pivotal role of genetic analysis in determining the pathogenesis of stroke and dementia.