Article
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
Neuroscience letters - 2 Oct 2009
Volkers Linda, Rook Martin B, Das Joost H G, Verbeek Nienke E, Groenewegen W Antoinette, van Kempen Marjan J A, Lindhout Dick, Koeleman Bobby P C
Abstract excerpt
Benign Familial Neonatal Convulsions (BFNC) are a rare epilepsy disorder with an autosomal-dominant inheritance. It is linked to mutations in the potassium channel genes KCNQ2 and KCNQ3. These encode for Kv7.2 and Kv7.3 potassium ion channels, which produce an M-current that regulates the potential firing action in neurons through modulation of the membrane potential. We report on the biophysical and biochemical...
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