KCNQ2 and Kleefstra syndrome: In this work, we have explored the molecular pathogenesis of a Kv7.2 mutation (R325G) found recurrently in three cases of Kv7.2-EE with early-onset seizures, burst-suppression pattern at the EEG, and profound global developmental delay15, 16; the same variant has been more recently reported in a fourth patient with atypical presentation (neonatal-onset seizures) of the Kleefstra syndrome, a genetic disorder characterized by intellectual disability, limited or absent speech, hypotonia, synophrys, hypertelorism, and microcephaly17.