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Article

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

4 Sept 2020

Abstract excerpt

Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early‐onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from Benign Familial Neonatal Epilepsy (BFNE) to early‐onset developmental and epileptic encephalopathy. KCNQ2 variants account for the majority of pedigrees with BFNE and...

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PMID: 33013448
DOI: 10.3389/fphys.2020.01040

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