Key result
A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene in a patient with BFNC resulted in mutant K+ channel subunits that failed to form functional homomeric channels.
Case Report (n=1)
A novel KCNQ2 mutation (2043DeltaT) in a patient with BFNC and centrotemporal spikes results in loss of function without dominant-negative effects.
Novel KCNQ2 variant shows loss-of-function without dominant-negative effects in BFNC; leaves open broader mechanistic and therapeutic implications.
Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.
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Coppola et al. (2003) conducted a case report in Benign familial neonatal convulsions (BFNC) (n=1). KCNQ2 1-base pair deletion (2043DeltaT) was evaluated on Electrophysiologic properties of mutant K+ channel subunits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene in a patient with BFNC resulted in mutant K+ channel subunits that failed to form functional homomeric channels.
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