Associated Papers
Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.
Esener Z et al.
American Journal of Medical Genetics. Part A, 2025
Functional validation of human SK channels variants causing NEDMAB and Zimmermann-Laband syndrome-3 in C. elegans.
Sechi S et al.
Brain Communications, 2025
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.
Nam YW et al.
Acta Pharmacologica Sinica, 2023
Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity.
Orfali R et al.
Cell Calcium, 2022
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Gripp KW et al.
European Journal of Human Genetics : Ejhg, 2021
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Bauer CK et al.
American Journal of Human Genetics, 2019
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