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Articles

Epilepsy-associated potassium channel KCNT1 is required for multiciliated cell development in Xenopus

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By Kate McCluskey, MATTHEW TRAN, Angeline K. Chemel
| BioRxiv
Abstract Pathogenic variants in the gene KCNT1, which encodes a sodium-activated potassium channel, cause a severe neurodevelopmental disorder with intractable epilepsy. In addition to seizures, affected individuals commonly present with severe respiratory issues and structural heart defects not commonly observed in other genetic pediatric epilepsies, suggesting additional developmental functions for KCNT1 in organs beyond the brain.
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The gene expression landscape of the human locus coeruleus revealed by single-nucleus and spatially-resolved transcriptomics

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By Lukas Weber, Heena R. Divecha, MATTHEW TRAN, Sang Ho Kwon
| eLife
eLife assessment This is an important initial study of cell type and spatially resolved gene expression in and around the locus coeruleus, the primary source of the neuromodulator norepinephrine in the human brain. The data are generated with cutting-edge techniques, and the work lays the foundation for future descriptive and experimental approaches to understand the contribution of the locus coeruleus to healthy brain function and disease. The empirical support for the main conclusions is solid.
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