Article
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain : a journal of neurology - 29 Jul 2022
Gozzelino Luca, Kochlamazashvili Gaga, Baldassari Sara, Mackintosh Albert Ian, Licchetta Laura, Iovino Emanuela, Liu Yu Chi, Bennett Caitlin A, Bennett Mark F, Damiano John A, Zsurka Gábor, Marconi Caterina, Giangregorio Tania, Magini Pamela, Kuijpers Marijn, Maritzen Tanja, Norata Giuseppe Danilo, Baulac Stéphanie, Canafoglia Laura, Seri Marco, Tinuper Paolo, Scheffer Ingrid E, Bahlo Melanie, Berkovic Samuel F, Hildebrand Michael S, Kunz Wolfram S, Giordano Lucio, Bisulli Francesca, Martini Miriam, Haucke Volker, Hirsch Emilio, Pippucci Tommaso
Abstract excerpt
Epilepsy is one of the most frequent neurological diseases, with focal epilepsy accounting for the largest number of cases. The genetic alterations involved in focal epilepsy are far from being fully elucidated. Here, we show that defective lipid signalling caused by heterozygous ultra-rare variants in PIK3C2B, encoding for the class II phosphatidylinositol 3-kinase PI3K-C2β, underlie focal epilepsy in humans. We...
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