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:
water inhabits reservoirs within the cycle, such as ponds, oceans, or the atmosphere. The molecules move between these reservoirs by certain processes, including condensation and precipitation. ... If climate cools and glaciers and ice caps grow, there is less water for the oceans and sea level will fall.
Explanation:
Explanation:
mass is a weight ofan object .
Answer:
The volume of solution B will increase
Explanation:
In a non-penetrating solute, there is denial of a solute to cross the cell membrane.This implies that the solute will not be able to cross the cell membrane. So if the biological membrane is serving as a partition between a solution A containing 400 mosmol/L non-penetrating solute and a solution B containing 600 mosmol/L non-penetrating solute, The volume of solution B will increase.