PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.
Xiuyu ShiYoungshin LimAbigail K MyersBrenna L StallingsAlmedia MccoyJordan ZeigerJoshua ScheckGinam ChoEric D MarshGhayda M MirzaaTao TaoJeffrey A GoldenPublished in: Annals of neurology (2020)
We have generated a PIK3R2 mouse model that exhibits megalencephaly and EEG changes, both of which overlap with human patients. Our data provide novel insight into the pathogenesis of the human disease caused by PIK3R2 p.G373R mutation. We anticipate this model will be valuable in testing therapeutic options for human patients with MPPH. ANN NEUROL 2020;88:1077-1094.