Condition: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2


rs397514605 in AKT3 gene and MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.