Article
Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathy
2025-12-03
Abstract excerpt
Brain voltage-gated potassium channels containing the subunit KCNQ2 are essential for regulating electrical signals contributing to sensation, learning, memory, and motor control. De novo KCNQ2 variants are among the more common Mendelian causes of early life epilepsy and neurodevelopmental impairment. Some patients with KCNQ2 variants are affected with KCNQ2 developmental and epileptic encephalopathy ( KCNQ2...
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Identifiers and source
- Literature Corpus work
- 0ca6a7d0-31c8-53f1-8e37-c55331ac039a
- DOI
- 10.64898/2025.12.01.691689
