Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria).
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly / Alcantara D, Timms A, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G,, Gomez-Ospina N16, Lehman A12, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. - In: BRAIN. - ISSN 0006-8950. - ELETTRONICO. - (2017), pp. 2610-2622. [10.1093/brain/awx203]
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Guerrini R;
2017
Abstract
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria).
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