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, T.A.. - 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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