Using a targeted gene panel, investigators at Kocaeli University in Turkey identified pathogenic or likely pathogenic variants in 29 out of 129 children with symptoms suggestive of DEE. Four had KCNQ2 variants, making it the second most affected gene identified in the panel. These four individuals had heterozygous missense variants in the pore domain (p.T274M, p.A306V) or voltage-sensing domain (p.S195F, p.R207W). All had early-onset seizures, and one (with a voltage-sensing domain variant) displayed autism-like features.

https://pubmed.ncbi.nlm.nih.gov/41153369/