PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes

Objective Mutations in phosphatidylinositol‐4,5‐bisphosphate 3‐kinase (PI3K) complex have been associated with a broad spectrum of brain and organ overgrowth syndromes. For example, mutations in phosphatidylinositol‐3‐kinase regulatory subunit 2 (PIK3R2) have been identified in human patients with m...

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Veröffentlicht in:	Annals of neurology 2020-12, Vol.88 (6), p.1077-1094
Hauptverfasser:	Shi, Xiuyu, Lim, Youngshin, Myers, Abigail K., Stallings, Brenna L., Mccoy, Almedia, Zeiger, Jordan, Scheck, Joshua, Cho, Ginam, Marsh, Eric D., Mirzaa, Ghayda M., Tao, Tao, Golden, Jeffrey A.
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Phosphatidylinositol 3-kinase AKT protein Animal models Animals Brain Brain - pathology Cell proliferation Cell size CRISPR EEG Electroencephalography Embryos Epilepsy Epilepsy - diagnosis Female Gene Knock-In Techniques - methods Humans Hydrocephalus In vivo methods and tests Kinases Lamination Male Megalencephaly Megalencephaly - genetics Megalencephaly - pathology Mice Mutation Pathogenesis Phenotypes Phosphatidylinositol 3-Kinases - genetics Polydactyly Polymicrogyria Proteasome Endopeptidase Complex - metabolism Seizures Seizures - genetics Signal Transduction - genetics Syndrome
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