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Science 1998 Jan 16;2795349:403-6.
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A potassium channel mutation in neonatal human epilepsy.

Biervert C , Schroeder BC , Kubisch C , Berkovic SF , Propping P , Jentsch TJ , Steinlein OK .

Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog (Xenopus laevis) oocytes led to potassium-selective currents that activated slowly with depolarization. In a large pedigree with BFNC, a five-base pair insertion would delete more than 300 amino acids from the KCNQ2 carboxyl terminus. Expression of the mutant channel did not yield measurable currents. Thus, impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.

PubMed ID: 9430594
Article link: Science

Species referenced: Xenopus laevis
Genes referenced: chrna4 kcnq2