Yes, it is true that Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy.
Using targeted and exome sequencing on DNA from resected brain samples and non-brain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 patients, and a likely pathogenic variant in 1 additional patient.
Our data confirm the association of DEPDC5 with sporadic FCD but also implicate this gene for the first time in HME. Our findings suggest that modulation of the mammalian target of rapamycin pathway may hold promise for malformation-associated epilepsy.
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Answer:
the right atrium.
Explanation:
Blood enters the heart through two large veins, the inferior and superior vena cava, emptying oxygen-poor blood from the body into the right atrium.
It pulls towards it until it gets to a certain point and pushes away and so it stays in a steady orbit
Explanation: Spotted fur because it helps the serval to blend in and punce on unexpecting prey
Answer:
batholiths
Explanation:
batholiths are large masses of rocks composed of granite formed deep in the earth crust and ejectable in a molten state.
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