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Article

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

24 Jun 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22729223
DOI: 10.1038/ng.2329

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Related research

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalyPMID 22729223Read ↗

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disordersSemantic proximity Read ↗

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephalySemantic proximity Read ↗

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Semantic proximity Read ↗

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delaySemantic proximity Read ↗

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.Semantic proximity Read ↗

Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable SeizuresSemantic proximity Read ↗

The role of somatic mutational events in the pathogenesis of epilepsySemantic proximity Read ↗

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.Semantic proximity Read ↗

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.Semantic proximity Read ↗

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.Semantic proximity Read ↗

Somatic mutation involving diverse genes leads to a spectrum of focal cortical malformationsSemantic proximity Read ↗

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalitiesSemantic proximity Read ↗

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