Article ; Online: Spectrum of K
2019 Volume 86, Issue 6, Page(s) 899–912
Abstract: Objective: Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K: Methods ... we investigated the biophysical properties and cell-surface expression of variant K: Results: Pathogenic ... dependence of activation and/or inactivation, as homotetramers or when coexpressed with wild-type K ...
Abstract | Objective: Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K Methods: We evaluated a series of 17 KCNB1 variants associated with DEE or other neurodevelopmental disorders (NDDs) to rapidly ascertain channel dysfunction using high-throughput functional assays. Specifically, we investigated the biophysical properties and cell-surface expression of variant K Results: Pathogenic variants exhibited diverse functional defects, including altered current density and shifts in the voltage dependence of activation and/or inactivation, as homotetramers or when coexpressed with wild-type K Interpretation: Our study establishes a platform for rapid screening of K |
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MeSH term(s) | Amino Acid Sequence ; Animals ; CHO Cells ; Cricetinae ; Cricetulus ; Genetic Variation/genetics ; High-Throughput Screening Assays/methods ; Humans ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Protein Structure, Secondary ; Shab Potassium Channels/chemistry ; Shab Potassium Channels/genetics |
Chemical Substances | KCNB1 protein, human ; Shab Potassium Channels |
Language | English |
Publishing date | 2019-10-24 |
Publishing country | United States |
Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't |
ZDB-ID | 80362-5 |
ISSN | 1531-8249 ; 0364-5134 |
ISSN (online) | 1531-8249 |
ISSN | 0364-5134 |
DOI | 10.1002/ana.25607 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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