Christianson Syndrome is a rare disorder whose symptoms include intellectual disability, seizures and difficulty standing or walking. Researchers focusing on the intellectual disability aspect of the disease, have shown for the first time how a specific mutant form of the SLC9A6 encoding gene for the NHE6 protein affects the ability of neurons to form and strengthen connections.
from
https://healthnews010.wordpress.com/2019/07/04/how-protein-mutation-is-involved-in-rare-brain-development-disorder/
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