Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S<sub>2</sub> Transmembrane Segment: Clinical, Genetic, and Functional Features

Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S<sub>2</sub> Transmembrane Segment: Clinical, Genetic, and Functional Features

Kv7.2 subunits encoded by the <i>KCNQ2</i> gene provide a major contribution to the M-current (I<sub>KM</sub>), a voltage-gated K<sup>+</sup> current crucially involved in the regulation of neuronal excitability. Heterozygous missense variants in Kv7.2 are respons...

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Bibliographic Details
Main Authors: Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Francesco Miceli, Cristina Franco, Lorella Maria Teresa Canzoniero, Beth Kline-Fath, Edward C. Cooper, Charu Venkatesan, Maurizio Taglialatela
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:International Journal of Molecular Sciences
Subjects:
Kv7 channels
voltage sensor
epileptic encephalopathy
retigabine
coupled charge reversal
homology model
Online Access:https://www.mdpi.com/1422-0067/20/14/3382

Internet

https://www.mdpi.com/1422-0067/20/14/3382

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