메뉴 건너뛰기




Volumn 47, Issue 6, 2000, Pages 822-826

A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE ISOLATION; GENE MUTATION; HUMAN; JAPAN; MALE; NEWBORN PERIOD; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PRIORITY JOURNAL;

EID: 18844468798     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.0.CO;2-X     Document Type: Article
Times cited : (108)

References (20)
  • 1
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 2
    • 0030916583 scopus 로고    scopus 로고
    • An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6: 943-947
    • (1997) Hum Mol Genet , vol.6 , pp. 943-947
    • Steinlein, O.K.1    Magnusson, A.2    Stoodt, J.3
  • 3
    • 0032536030 scopus 로고    scopus 로고
    • A potassium channel mutation in neonatal human epilepsy
    • Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279: 403-400
    • (1998) Science , vol.279 , pp. 403-1400
    • Biervert, C.1    Schroeder, B.C.2    Kubisch, C.3
  • 4
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-55
    • (1998) Nat Genet , vol.18 , pp. 53-55
    • Charlier, C.1    Singh, N.A.2    Ryan, S.G.3
  • 5
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
    • Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-29
    • (1998) Nat Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3
  • 7
    • 0033544326 scopus 로고    scopus 로고
    • A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
    • Hirose S, Iwata H, Akiyoshi H, et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 1999;53:1749-1753
    • (1999) Neurology , vol.53 , pp. 1749-1753
    • Hirose, S.1    Iwata, H.2    Akiyoshi, H.3
  • 8
    • 0024502803 scopus 로고
    • Benign familial neonaral convulsions linked to genetic markers on chromosome 20
    • Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonaral convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-648
    • (1989) Nature , vol.337 , pp. 647-648
    • Leppert, M.1    Anderson, V.E.2    Quattlebaum, T.3
  • 9
    • 0025730211 scopus 로고
    • Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity
    • Ryan SG, Wiznitzer M, Hollman C, et al. Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. Ann Neurol 1991;29:469-473
    • (1991) Ann Neurol , vol.29 , pp. 469-473
    • Ryan, S.G.1    Wiznitzer, M.2    Hollman, C.3
  • 10
    • 0026582327 scopus 로고
    • Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
    • Malafosse A, Leboyer M, Dulac O, et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 1992;89:54-58
    • (1992) Hum Genet , vol.89 , pp. 54-58
    • Malafosse, A.1    Leboyer, M.2    Dulac, O.3
  • 11
    • 0027359350 scopus 로고
    • Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
    • Lewis TB, Leach RJ, Ward K, et al. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53: 670-675
    • (1993) Am J Hum Genet , vol.53 , pp. 670-675
    • Lewis, T.B.1    Leach, R.J.2    Ward, K.3
  • 12
    • 0032911049 scopus 로고    scopus 로고
    • Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions
    • Biervert C, Steinlein OK. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet 1999;104:234-240
    • (1999) Hum Genet , vol.104 , pp. 234-240
    • Biervert, C.1    Steinlein, O.K.2
  • 13
    • 0024605518 scopus 로고
    • Analysis of anypoint mutation in DNA: The amplification refractory mutation system (ARMS)
    • Newton CR, Graham A, Heptinstall LE, et al. Analysis of anypoint mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-2516
    • (1989) Nucleic Acids Res , vol.17 , pp. 2503-2516
    • Newton, C.R.1    Graham, A.2    Heptinstall, L.E.3
  • 15
    • 0032483972 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel
    • Wang HS, Pan Z, Shi W, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998;282:1890-1893
    • (1998) Science , vol.282 , pp. 1890-1893
    • Wang, H.S.1    Pan, Z.2    Shi, W.3
  • 16
    • 0032584595 scopus 로고    scopus 로고
    • Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
    • Yang WP, Levesque PC, Little WA, et al. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J Biol Chem 1998;273:19419-19423
    • (1998) J Biol Chem , vol.273 , pp. 19419-19423
    • Yang, W.P.1    Levesque, P.C.2    Little, W.A.3
  • 17
    • 0033524936 scopus 로고    scopus 로고
    • KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
    • Kubisch C, Schroeder BC, Friedrich T, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437-446
    • (1999) Cell , vol.96 , pp. 437-446
    • Kubisch, C.1    Schroeder, B.C.2    Friedrich, T.3
  • 19
    • 13144267750 scopus 로고    scopus 로고
    • Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome
    • Neyroud N, Denjoy I, Donger C, et al. Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. Eur J Hum Genet 1998;6:129-133
    • (1998) Eur J Hum Genet , vol.6 , pp. 129-133
    • Neyroud, N.1    Denjoy, I.2    Donger, C.3
  • 20
    • 0028923465 scopus 로고
    • Recommendations for standardized human pedigree nomenclature. Pedigree standardization task force of the national society of genetic counselors
    • Bennett RL, Steinhaus KA, Uhrich SB, et al. Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 1995;56:745-752
    • (1995) Am J Hum Genet , vol.56 , pp. 745-752
    • Bennett, R.L.1    Steinhaus, K.A.2    Uhrich, S.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.