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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Your carbon atom enters the leaf as CO2 (carbon dioxide) from the atmosphere. <span>In the leaf, chlorophyll uses the energy from the sun to convert CO2 and H2O to the sugar glucose, C6H12O6. Your carbon atom is part of this molecule; it is now one of the carbons in the glucose. </span>
<span>Next, the glucose carrying your carbon atom is sent down the phloem tissue of the carrot plant to the root, which is the carrot itself. </span><span>Enzymes in the carrot root connect the glucose molecule with your carbon atom into a chain with other glucose molecules, forming cellulose, or plant starch, and there you go. Your carbon atom went from being part of an atmospheric gas to a starch via photosynthesis and starch formation in the root. </span>
<span>I hope that helps!</span>
Answer:
To describe a new specie, it has to be carefully examined in order to determinate that it doesn´t belong to an another specie already described.
Once it has been determinate the novelty of the specie, the researchers write a formal description of it, takes pictures and name it with the new scientific name. Then, the researchers refer it to a scientific magazine. The editor of the publication will comunicate the new discovery to an experts in that gender. If the experts agreed, and the publication accept the study, the specimen converts to a new specie. The process is long and could take years betwen the inicial discovery and the formal acceptation of the new specie
Explanation:
