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Article

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

1 Feb 2022

Abstract excerpt

Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with early onset epilepsy and/or developmental disability, but the functional consequences of most variants are unknown. Absent functional annotation for KCNQ2 variants hinders identification of individuals who may benefit from emerging precision therapies. We employed automated patch clamp recordings to assess...

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Cardiac electrophysiology and arrhythmias
Epilepsy research and treatment
Ion channel regulation and function

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35104249
DOI: 10.1172/jci.insight.156314

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