How protein mutation is involved in rare brain development disorder

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 http://feeds.sciencedaily.com/~r/sciencedaily/health_medicine/childrens_health/~3/GdFeLVHOvjM/190703150520.htm

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