Key result
A five-base pair insertion in the KCNQ2 potassium channel gene, which abolishes measurable potassium currents, was identified in a large pedigree with benign familial neonatal convulsions.
A mutation in the KCNQ2 potassium channel gene impairs potassium-dependent repolarization, likely causing benign familial neonatal convulsions.
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Suggests KCNQ2 loss-of-function in benign familial neonatal convulsions; leaves open causal confirmation and clinical translation.
Biervert et al. (1998) studied Benign familial neonatal convulsions (BFNC). KCNQ2 mutation (five-base pair insertion) vs. Wild-type KCNQ2 was evaluated on Potassium-selective currents. A five-base pair insertion in the KCNQ2 potassium channel gene, which abolishes measurable potassium currents, was identified in a large pedigree with benign familial neonatal convulsions.
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