Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L, Kochlamazashvili G, Baldassari S, Mackintosh AI, Licchetta L, Iovino E, Liu YC, Bennett CA, Bennett MF, Damiano JA, Zsurka G, Marconi C, Giangregorio T, Magini P, Kuijpers M, Maritzen T, Norata GD, Baulac S, Canafoglia L, Seri M, Tinuper P, Scheffer IE, Bahlo M, Berkovic SF, Hildebrand MS, Kunz WS, Giordano L, Bisulli F, Martini M, Haucke V, Hirsch E, Pippucci T.
Gozzelino L, et al.
Brain. 2022 Jul 29;145(7):2313-2331. doi: 10.1093/brain/awac082.
Brain. 2022.
PMID: 35786744
Free PMC article.
Here, we show that defective lipid signalling caused by heterozygous ultra-rare variants in PIK3C2B, encoding for the class II phosphatidylinositol 3-kinase PI3K-C2beta, underlie focal epilepsy in humans. We demonstrate that patients' variants act as loss-of-function allel …
Here, we show that defective lipid signalling caused by heterozygous ultra-rare variants in PIK3C2B, encoding for the class II phosph …