Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders

Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders

Pathogenic variants in <i>KCNA2</i>, encoding for the voltage-gated potassium channel K<sub>v</sub>1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, inte...

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Bibliographic Details
Main Authors: Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
voltage-gated potassium channel
K<sub>v</sub>1.2
shaker
epileptic encephalopathy
epilepsy
ataxia
Online Access:https://www.mdpi.com/1422-0067/22/6/2824

Internet

https://www.mdpi.com/1422-0067/22/6/2824

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