title: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
abstract: Benign familial neonatal convulsions (BFNC) is a rare autosomal inherited epilepsy. We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC. A missense mutation C686T predicting the change of one of the innermost arginine (R214W) of the key functional voltage sensor (S4 helix), has been found in all affected members. This substitution probably reduces the movement of the voltage sensor that precedes channel opening during voltage-dependent activation. Several mutations affecting the trans-membrane domain and the pore region of the K+ channels belonging to the KQT-like family have been described in some human diseases associated with altered regulation of cellular excitability (ie BFNC, some LQT syndromes and DFNA2). R214W represents the first mutation involving the region of the voltage sensor.
authors.affiliation: Department of Pediatrics, Second University of Naples, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Miraglia del Giudice
authors.forename: G
authors.initials: G
authors.lastname: Coppola
authors.forename: G
authors.initials: G
authors.lastname: Scuccimarra
authors.forename: G
authors.initials: G
authors.lastname: Cirillo
authors.forename: G
authors.initials: G
authors.lastname: Bellini
authors.forename: A
authors.initials: A
authors.lastname: Pascotto
mesh_terms: D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D051658:KCNQ2 Potassium Channel; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D017386:Sequence Homology, Amino Acid
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated