Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol

Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol

Abstract Background The KCNH1 gene (OMIM #603,305) encodes a voltage-gated potassium channel primarily found in the central nervous system. Recent discoveries have linked pathogenic variations in this gene to Temple-Baraitser syndrome (TMBTS, OMIM #611,816) and Zimmermann-Laband syndrome (ZLS, OMIM...

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Main Authors: Nhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, Alexandra Jimenez-Armijo, Elise Schaefer, Gaétan Caravello, Lucas Geyer, Sarah Baer, Laurent Marcoux, François Clauss, Agnès Bloch-Zupan
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Oral Health
Subjects:
Gingival fibromatosis
Gingival hyperplasia
Gingivoplasty
Temple-Baraitser Syndrome
Zimmermann-Laband Syndrome
KCNH1 developmental and epileptic encephalopathy
Online Access:https://doi.org/10.1186/s12903-025-06197-7
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https://doi.org/10.1186/s12903-025-06197-7

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