PIK3R2

Publications

Mirzaa G et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004;35(6):353-9.  PMID: 15627943.

Rivi√®re JB et alDe novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012;44(8):934-40.  PMID: 22729224.

Mirzaa G et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015;14(12):1182-95.  PMID: 26520804.

Mirzaa G et al. MPPH Syndrome. GeneReviews¬ģ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2016 Nov 17. PMID: 27854409.