Publications by authors named "Lisa Dudler"
Article Synopsis
- Variants associated with neurodevelopmental impairments in children are complex and challenging to evaluate due to their diverse nature and unclear causes.
- The study highlights a case of a child with neonatal-onset epilepsy and a specific genetic variant (G256W) that impacts ion channel function and leads to reduced cell stability and conduction in nervous tissue.
- The research also establishes a mouse model that exhibits epilepsy and hyperexcitability in brain cells, linking the genetic variant to observable neurological behaviors and suggesting potential wider implications for understanding similar conditions in other patients.
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 G256W heterozygosity. Analyzing prior KCNQ2 channel cryoelectron microscopy models revealed G256 as a node of an arch-shaped non-covalent bond network linking S5, the pore turret, and the ion path.
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