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.
Learn more about mutations here : brainly.com/question/17031191
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I would say the answer is filters. They are responsible for showing entries that contain certain values according to the category you choose. For instance, you sort out the data by the date, when you choose from the filter list a certain date like jan 1, the sheet will be changed and will only show data for jan 1.
Answer: U JUST NEED TO DRAW THE LETTER E BIGGER INN EACH CIRCLE!
sorry for caps.. didnt notice it was on
Explanation:
A. social age
b. chronological age
c. psychological age
<span>d. biological age
Its D, biological age.</span>
Answer:
The correct answer is - option 4.
Explanation:
Atraumatic care is the process that helps in providing care need for therapy that involves interventions or actions that do not include or minimizing the mental distress experienced by the families and children.
The major principle is to avoid unnecessary distress and providing an essential intervention that is required for clinical or therapeutic care. In this case, nurse avoids distress before the procedure but still interventions of therapeutic care.
Thus, the correct answer is - option 4.
