⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

July 1, 2024Biophysical JournalOpen Access

Structural mapping of patient-associated KCNMA1 gene variants

Hans Moldenhauer Kelly Tammen Andrea L. Meredith

View Full Paper

Ask AI

Bookmark

Share

Abstract

KCNMA1-linked channelopathy is a neurological disorder characterized by seizures, motor abnormalities, and neurodevelopmental disabilities. The disease mechanisms are predicted to result from alterations in KCNMA1-encoded BK K

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Moldenhauer et al. (2024) studied this question.

synapsesocial.com/papers/68e61de3b6db6435875af8bc https://doi.org/10.1016/j.bpj.2023.11.3404

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Structural mapping of patient-associated <i>KCNMA1</i> gene variantspreclinical · 2023 · 1 citations
2BK Channelopathies and<i>KCNMA1</i>-Linked Disease Modelsreview · 2023 · 43 citations
3Novel Genetic Variants Expand the Functional, Molecular and Pathological Diversity of KCNA1 Channelopathyreview · 2023 · 7 citations
4Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathyreview · 2023 · 23 citations
5De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypescase_series · 2019 · 90 citations