Abstract
Investigators from Seattle Children's Research Institute, University of Washington, and collaborating institutions sought to evaluate 10 genes in the PI3K/AKT pathway as it relates epileptogenic brain malformations in patients with megalencephaly, hemimegalencephaly, and focal cortical dysplasia.
Highlights
They collected epileptic tissue specimens from 33 children with intractable epilepsy due to hemimegalencephaly (HMEG) and focal cortical dysplasia (FCD)
PI3K/AKT pathway activation as examined by western blot analysis showed an increase in phosphorylated AKT activity in the majority of HMEG and FCD tissue specimens
It makes intuitive sense that disruption of the mTOR pathway may result in a continuum of changes ranging from cortical dysplasia to megalencephaly, how many epileptogenic foci are truly caused by mutations? The mTOR pathway is influenced by numerous cell signals and the principle pathway exerting influence is PI3K/AKT
Summary
They collected epileptic tissue specimens from 33 children with intractable epilepsy due to hemimegalencephaly (HMEG) and focal cortical dysplasia (FCD). Of the 34 children, one had bilateral HMEG, and the rest had unilateral lesions (16 males, 18 females). 6 lesions were classified as HMEG; 27 as FCD (5 type I, 13 type IIa, 6 type IIb, and 3 type IIId).
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