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• W2790884431 abstract "A ketogenic diet maybe a potential 'new' treatment approach for dysplastic megalencephaly (DMEG) and hemimegalencephaly (HMEG). A ketogenic diet inhibits phosphatidylinositol-3-kinase (PI3K)-serine/threonine kinase (AKT)-mammalian target of rapamycin (MTOR) signaling, providing a rationale for its use to ameliorate epilepsy caused by overactivation of this pathway in HMEG and DMEG. All children suspected to have HMEG or DEMG on imaging should undergo a thorough medical assessment to check for stigmata of syndromic causes of HMEG and DMEG. The syndromic causes include tuberous sclerosis complex, Proteus syndrome, congenital lipomatosis, overgrowth, vascular malformations, and epidermal nevi syndrome (CLOVES), and other forms of somatic overgrowth or vascular malformations. Genetic studies have highlighted the importance of de novo mutations and somatic mosaicism in DMEG and HMEG. Since many of the mutations in humans are mosaic, future investigations might include regional and single-cell analysis of the genome to understand the molecular genetic basis of asymmetrical and focal brain overgrowth." @default.
• W2790884431 created "2018-03-29" @default.
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• W2790884431 date "2018-03-09" @default.
• W2790884431 modified "2023-09-29" @default.
• W2790884431 title "Hemimegalencephaly and Dysplastic Megalencephaly" @default.
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• W2790884431 doi "https://doi.org/10.1002/9781119013112.ch5" @default.
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