Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I

A spectrum of seizure disorders is linked to mutations in Kv7.2 and Kv7.3 channels. Linking functional effects of identified mutations to their clinical presentation requires ongoing characterization of newly identified variants. In this study, we identified and functionally characterized a previously unreported mutation in the selectivity filter of Kv7.3.Next-generation sequencing was used to identify the Kv7.3[T313I] mutation in a family...