Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Action Potentials
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Amino Acid Sequence
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Animals
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Brain / metabolism
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Chromosome Mapping
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Chromosomes, Human, Pair 20
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Cloning, Molecular
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Epilepsy / genetics*
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Epilepsy / metabolism
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Female
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Frameshift Mutation
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Humans
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Infant, Newborn
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KCNQ2 Potassium Channel
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Male
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Molecular Sequence Data
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Mutagenesis, Insertional
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Oocytes / metabolism
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Open Reading Frames
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Pedigree
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Potassium / metabolism
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Potassium Channels / chemistry
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Potassium Channels / genetics*
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Potassium Channels / metabolism
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Potassium Channels, Voltage-Gated*
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Xenopus laevis
Substances
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KCNQ2 Potassium Channel
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KCNQ2 protein, human
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Potassium Channels
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Potassium Channels, Voltage-Gated
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potassium channel protein I(sk)
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Potassium