What is it about?
Ion pumps are essential for several functions in the body. We have shown that a specific pump subtype (ATP1A3), when mutated, can result in brain malformations in children, and this pump is expressed in specific cell types in the developing human brain.
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Why is it important?
Our findings expand the genes identified as "Developmental Channelopathies", as well as the clinical spectrum associated with ATP1A3-related diseases to include brain malformations. Additionally, in conducting this study, we learned of a new gene that supports bioelectric processes that contribute to folding of the human brain. For more reading, see https://doi.org/10.1016/j.tins.2019.12.004
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This page is a summary of: Early role for a Na
) in brain development, Proceedings of the National Academy of Sciences, June 2021, Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.2023333118.
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