Concepedia

Cataplexy in Patients Harboring the <scp>KCNMA1 p.N999S</scp> Mutation

Jennifer Heim, Anusha Vemuri, Sara A. Lewis, Brandon S. Guida, Matthew M. Troester, Sotirios Keros, Andrea L. Meredith, Michael C. Kruer

Movement Disorders Clinical Practice · 2020 · 21 citations · 4 references

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References

4

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

Wei Du, Jocelyn F. Bautista, Huanghe Yang et al. · Nature Genetics · 2005 · 577 citations

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Carbonic anhydrase inhibitors are specific openers of skeletal muscle BK channel of K <sup>+</sup> ‐deficient rats

Domenico Tricarico, Mariagrazia Barbieri, Antonietta Mele et al. · The FASEB Journal · 2004 · 87 citations

, , +17

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

Li Xia, Sibylle Poschmann, Qiuyun Chen et al. · European Journal of Human Genetics · 2018 · 58 citations · Full text

, , +14

Comparative gain-of-function effects of the <i>KCNMA1</i>-N999S mutation on human BK channel properties

Hans Moldenhauer, Katia K. Matychak, Andrea L. Meredith · Journal of Neurophysiology · 2019 · 33 citations · Full text

, , +17