Research Progression of Kv7 and Benign Familial Neonatal Convulsions

Benign familial neonatal convulsions(BFNC) are benign courses with spontaneous remission during the early life and related to mutations in the voltage-gated potassium ion channels(KCN) KCNQ2 and KCNQ3. By 2004, 38 and 2 mutations in KCNQ2 and KCNQ3 have been found respectively. There were 14 and 3 mutations in KCNQ2 and KCNQ3 investigated in the last five years according MEDLINE database. Mutations in KCNQ2/3 genes have been found to be etiologies of BFNC disease and BFNC complicating peripheral nerve hyperexcitability (BFNC+PNH). Specifically, all patients with BFNC were found have mutations in KCNQ2/3 genes, but there were difference in mutation sites and types. The great achivements in genetics researches of BFNC were valuable as references and guidelines for other types of idiopathic epilepsies. The advances on studies about KCNQ2 and KCNQ3 mutations in BFNC families/patients according to the results which searched from MEDLINE database from 2005 to 2010 were discussed.