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Volumn 63, Issue 4, 1998, Pages 1108-1116

Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 15Q; CLINICAL ARTICLE; FEMALE; FRONTAL LOBE EPILEPSY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0032231423     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302047     Document Type: Article
Times cited : (209)

References (40)
  • 2
    • 0031050270 scopus 로고    scopus 로고
    • Epilepsies with single gene inheritance
    • Berkovic SF, Scheffer IE (1997) Epilepsies with single gene inheritance. Brain Dev 19:13-18
    • (1997) Brain Dev , vol.19 , pp. 13-18
    • Berkovic, S.F.1    Scheffer, I.E.2
  • 4
    • 11944260284 scopus 로고
    • Alpha3, alpha5 and beta4: Three members of the rat neuronal nicotinic acetylcholine receptor-related gene family form a gene cluster
    • Boulter J, O'Shea-Greenfield A, Duvoisin RM, Connolly JG, Wada E, Jensen A, Gardner PD, et al (1990) Alpha3, alpha5 and beta4: three members of the rat neuronal nicotinic acetylcholine receptor-related gene family form a gene cluster. J Biol Chem 265:4472-4482
    • (1990) J Biol Chem , vol.265 , pp. 4472-4482
    • Boulter, J.1    O'Shea-Greenfield, A.2    Duvoisin, R.M.3    Connolly, J.G.4    Wada, E.5    Jensen, A.6    Gardner, P.D.7
  • 6
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 8
    • 0026013289 scopus 로고
    • Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse
    • Eng CM, Kozak CA, Beaudet AL, Zoghbi HY (1991) Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics 9:278-282
    • (1991) Genomics , vol.9 , pp. 278-282
    • Eng, C.M.1    Kozak, C.A.2    Beaudet, A.L.3    Zoghbi, H.Y.4
  • 9
    • 10144229353 scopus 로고    scopus 로고
    • New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
    • Engel AG, Ohno K, Milone M, Wang H-L, Nakano S, Bouzat C, Pruitt JN II, et al (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 5:1217-1227
    • (1996) Hum Mol Genet , vol.5 , pp. 1217-1227
    • Engel, A.G.1    Ohno, K.2    Milone, M.3    Wang, H.-L.4    Nakano, S.5    Bouzat, C.6    Pruitt II, J.N.7
  • 11
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi K, Yandell DW (1993) How sensitive is PCR-SSCP? Hum Mutat 2:338-346
    • (1993) Hum Mutat , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2
  • 12
    • 0030697469 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation
    • Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF (1997) Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation. Neurology 49:969-975
    • (1997) Neurology , vol.49 , pp. 969-975
    • Hayman, M.1    Scheffer, I.E.2    Chinvarun, Y.3    Berlangieri, S.U.4    Berkovic, S.F.5
  • 13
    • 6844240853 scopus 로고    scopus 로고
    • Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
    • Johnson EW, Dubovsky J, Rich SS, O'Donnovan C, Orr HT, Anderson VE, Ahmann P, et al (1998) Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 7:63-68
    • (1998) Hum Mol Genet , vol.7 , pp. 63-68
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3    O'Donnovan, C.4    Orr, H.T.5    Anderson, V.E.6    Ahmann, P.7
  • 15
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 17
    • 0027359350 scopus 로고
    • Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
    • Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG (1993) Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 53:670-675
    • (1993) Am J Hum Genet , vol.53 , pp. 670-675
    • Lewis, T.B.1    Leach, R.J.2    Ward, K.3    O'Connell, P.4    Ryan, S.G.5
  • 18
    • 0028860661 scopus 로고
    • Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus
    • Lopes-Cendes I, Phillips HA, Scheffer IE, Mulley JC, Desbiens R, Andermann E, Cendes F, et al (1995) Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus. Epilepsy Res 22:227-233
    • (1995) Epilepsy Res , vol.22 , pp. 227-233
    • Lopes-Cendes, I.1    Phillips, H.A.2    Scheffer, I.E.3    Mulley, J.C.4    Desbiens, R.5    Andermann, E.6    Cendes, F.7
  • 19
    • 8244225989 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetykholine receptor [epsilon] subunit gene: Identification and functional characterization of six new mutations
    • Ohno K, Quiram PA, Milone M, Wang H-L, Harper MC, Pruitt II JN, Brengman JM, et al (1997) Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetykholine receptor [epsilon] subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 6:753-767
    • (1997) Hum Mol Genet , vol.6 , pp. 753-767
    • Ohno, K.1    Quiram, P.A.2    Milone, M.3    Wang, H.-L.4    Harper, M.C.5    Pruitt II, J.N.6    Brengman, J.M.7
  • 20
    • 0031931373 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome
    • Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalpra L, Makovati M, et al (1998) Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 121:205-223
    • (1998) Brain , vol.121 , pp. 205-223
    • Oldani, A.1    Zucconi, M.2    Asselta, R.3    Modugno, M.4    Bonati, M.T.5    Dalpra, L.6    Makovati, M.7
  • 23
    • 0030971230 scopus 로고    scopus 로고
    • SSCP variants within the α4 subunit of the neuronal nicotinic acetykholine receptor gene
    • Phillips HA, Mulley JC (1997) SSCP variants within the α4 subunit of the neuronal nicotinic acetykholine receptor gene. Clin Genet 51:135-136
    • (1997) Clin Genet , vol.51 , pp. 135-136
    • Phillips, H.A.1    Mulley, J.C.2
  • 26
    • 0027398069 scopus 로고
    • The diversity of neuronal nicotinic acetylcholine receptors
    • Sargent PB (1993) The diversity of neuronal nicotinic acetylcholine receptors. Annu Rev Neurosci 16:403-443
    • (1993) Annu Rev Neurosci , vol.16 , pp. 403-443
    • Sargent, P.B.1
  • 28
    • 0028900303 scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy: A distinctive clinical disorder
    • _(1995) Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 118:61-73
    • (1995) Brain , vol.118 , pp. 61-73
  • 29
    • 0024002480 scopus 로고
    • A cDNA clone coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor
    • Schoepfer R, Whiting P, Esch F, Blacker R, Shimasaki S, Lindstrom J (1988) A cDNA clone coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor. Neuron 1:241-248
    • (1988) Neuron , vol.1 , pp. 241-248
    • Schoepfer, R.1    Whiting, P.2    Esch, F.3    Blacker, R.4    Shimasaki, S.5    Lindstrom, J.6
  • 31
    • 0029338992 scopus 로고
    • Detection of a Cfo1 polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4)
    • Steinlein O (1995) Detection of a Cfo1 polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4). Hum Genet 96:130
    • (1995) Hum Genet , vol.96 , pp. 130
    • Steinlein, O.1
  • 33
    • 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, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, et al (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201-203
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6    Scheffer, I.E.7
  • 34
    • 0029866498 scopus 로고    scopus 로고
    • Exonintron structure of the human neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4)
    • Steinlein O, Weiland S, Stoodt J, Propping P (1996) Exonintron structure of the human neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). Genomics 32:289-294
    • (1996) Genomics , vol.32 , pp. 289-294
    • Steinlein, O.1    Weiland, S.2    Stoodt, J.3    Propping, P.4
  • 36
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP (1997) Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61:889-898
    • (1997) Am J Hum Genet , vol.61 , pp. 889-898
    • Szepetowski, P.1    Rochette, J.2    Berquin, P.3    Piussan, C.4    Lathrop, G.M.5    Monaco, A.P.6
  • 37
    • 0029881889 scopus 로고    scopus 로고
    • Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
    • Wallace R, Berkovic S, Howell R, Sutherland G, Mulley J (1996) Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 33:308-312
    • (1996) J Med Genet , vol.33 , pp. 308-312
    • Wallace, R.1    Berkovic, S.2    Howell, R.3    Sutherland, G.4    Mulley, J.5
  • 38
    • 0030460135 scopus 로고    scopus 로고
    • Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4)
    • Weiland S, Steinlein O (1996) Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4). Clin Genet 50:433-434
    • (1996) Clin Genet , vol.50 , pp. 433-434
    • Weiland, S.1    Steinlein, O.2
  • 39
    • 0030602149 scopus 로고    scopus 로고
    • An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
    • Weiland S, Witzemann V, Villarrael A, Propping P, Steinlein O (1996) An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Letters 398:91-96
    • (1996) FEBS Letters , vol.398 , pp. 91-96
    • Weiland, S.1    Witzemann, V.2    Villarrael, A.3    Propping, P.4    Steinlein, O.5


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