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Article

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

International journal of molecular sciences - 10 Mar 2021

Döring Jan H, Schröter Julian, Jüngling Jerome, Biskup Saskia, Klotz Kerstin A, Bast Thomas, Dietel Tobias, Korenke G Christoph, Christoph Sophie, Brennenstuhl Heiko, Rubboli Guido, Møller Rikke S, Lesca Gaetan, Chaix Yves, Kölker Stefan, Hoffmann Georg F, Lemke Johannes R, Syrbe Steffen

Abstract excerpt

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetics and Neurodevelopmental Disorders

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Share to Ion channel regulation and function

Share to Mutation, Missense

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Identifiers

PMID: 33802230
DOI: 10.3390/ijms22062824
PMCID: PMC7999221

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Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.PMID 33802230Read ↗

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