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Article

High-throughput Evaluation of Epilepsy-associated <i>KCNQ2</i> Variants Reveals Functional and Pharmacological Heterogeneity

2021-10-19

Abstract excerpt

<h4>ABSTRACT</h4> Hundreds of KCNQ2 variants have been identified by genetic testing of children with early onset epilepsy and/or developmental disability. Voltage-clamp recording from heterologous cells has proved useful for establishing deleterious functional effects of KCNQ2 variants, but procedures adapting these assays for standardized, higher throughput data collection and reporting are lacking. In this s...

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Literature Corpus work
4bc97e79-3184-51c0-a68a-0bc3fb5a6a1f
DOI
10.1101/2021.10.18.464842
Open publication

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High-throughput Evaluation of Epilepsy-associated <i>KCNQ2</i> Variants Reveals Functional and Pharmacological HeterogeneityDOI 10.1101/2021.10.18.464842
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