A Novel <i>KCNA2</i> Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

A Novel <i>KCNA2</i> Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

Kv1.2 channels, encoded by the <i>KCNA2</i> gene, are localized in the central and peripheral nervous system, where they regulate neuronal excitability. Recently, heterozygous mutations in <i>KCNA2</i> have been associated with a spectrum of symptoms extending from epileptic...

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Bibliographic Details
Main Authors: Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D’Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:International Journal of Molecular Sciences
Subjects:
<i>KCNA2</i>
ataxia
epilepsy
patch clamp
molecular dynamics
4-aminopyridine (4-AP)
Online Access:https://www.mdpi.com/1422-0067/22/18/9913

Internet

https://www.mdpi.com/1422-0067/22/18/9913

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