title: Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait.
abstract: A nonconservative amino acid substitution (Ser857Asn) in the human delayed-rectifier potassium channel DRK1 (KCNB1 locus), a candidate gene for the low voltage alpha electroencephalogram (EEG) trait locus (LVEEG1) at 20q13.2, and its frequency in ethnic population samples are described. The frequency of Asn857 in seven different ethnic population samples, totalling more than 1600 individuals, ranged from zero to greater than 3%. However, no association was found between Asn857 and the low voltage alpha EEG trait (LVA) in a population of 105 subjects assessed for the EEG, 24 of whom actually had LVA.
authors.affiliation: Laboratory of Neurogenetics, National Institutes of Health, Rockville, MD, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Mazzanti
authors.forename: A
authors.initials: A
authors.lastname: Bergen
authors.forename: M A
authors.initials: MA
authors.lastname: Enoch
authors.forename: S
authors.initials: S
authors.lastname: Michelini
authors.forename: D
authors.initials: D
authors.lastname: Goldman
mesh_terms: D000483:Alleles; D000513:Alpha Rhythm; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D051668:Delayed Rectifier Potassium Channels; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D051669:Shab Potassium Channels
chemical_list: D017931:DNA Primers; D051668:Delayed Rectifier Potassium Channels; C496988:KCNB1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D051669:Shab Potassium Channels