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Article

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

Annals of neurology - 1 Dec 2020

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

Abstract excerpt

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 megalencephaly polymicrogyria polydactyly hydrocephalus (MPPH) syndrome, which includes brain overgrowth. To better...

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Identifiers

PMID: 32856318
DOI: 10.1002/ana.25890
PMCID: PMC8176885

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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