Article

Plural molecular and cellular mechanisms of pore domain <i>KCNQ2</i> encephalopathy

2024-01-05

Abstract excerpt

KCNQ2 variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity, and KCNQ2 G256W heterozygosity. Analyzing prior KCNQ2 channel cryoelectron microscopy models revealed G256 as a node of an arch-shaped non-covalent bond network linkin...

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Literature Corpus work: 98036992-7220-5415-9b5b-9d1d20b9f165
DOI: 10.1101/2024.01.04.574177

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