Associated Papers
De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.
Yan HJ et al.
Frontiers in Genetics, 2025
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Elhossini RM et al.
American Journal of Medical Genetics. Part A, 2024
Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy.
Yan HJ et al.
Frontiers in Molecular Neuroscience, 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
Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene.
Mariani P et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2021
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
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Bauer CK et al.
American Journal of Human Genetics, 2018
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