Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction

Abstract

3; P-loop, pore loop; M-current, neuronal muscarinic regulated current; S1-6, first to sixth transmembrane domains Key points N We set out to ascertain KCNQ2 mutations in 10 families with benign familial neonatal seizures (BFNS), and to determine if any mutations from the C-terminal region affected the interaction between KCNQ2 and the ubiquitous calcium sensing protein, calmodulin (CaM).