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Volumn 12, Issue 1, 2000, Pages 7-15

Clinical heterogeneity in genetically determined idiopathic epilepsy;Heterogeneity clinique dans les epilepsies idiopathiques genetiquement determinees

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR; POTASSIUM CHANNEL; SODIUM CHANNEL;

EID: 0033927386     PISSN: 11496576     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (34)
  • 1
    • 0033364824 scopus 로고    scopus 로고
    • A second locus for familial generalized epilepsy with febrile seizures plus (GEFS+) maps to chromosome 2q21-q33
    • Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Pruc'Homme J-F, Baulac M, et al. A second locus for familial generalized epilepsy with febrile seizures plus (GEFS+) maps to chromosome 2q21-q33. Am J Hum Genet 1999; 65 : 1078-1085.
    • (1999) Am J Hum Genet , vol.65 , pp. 1078-1085
    • Baulac, S.1    Gourfinkel-An, I.2    Picard, F.3    Rosenberg-Bourgin, M.4    Pruc'Homme, J.-F.5    Baulac, M.6
  • 2
    • 0031748082 scopus 로고    scopus 로고
    • Epilepsies in twins : Genetics of the major epilepsy syndromes
    • Berkovic SF, Howell RA, Hay DA, Hopper JL. Epilepsies in twins : genetics of the major epilepsy syndromes. Ann Neurol 1998; 43 : 435-445.
    • (1998) Ann Neurol , vol.43 , pp. 435-445
    • Berkovic, S.F.1    Howell, R.A.2    Hay, D.A.3    Hopper, J.L.4
  • 6
    • 0030806159 scopus 로고    scopus 로고
    • Phenotype variation and newcomers in ion channel disorders
    • Bulman DE. Phenotype variation and newcomers in ion channel disorders. Hum Mol Genet 1997; 6 : 1679-1685.
    • (1997) Hum Mol Genet , vol.6 , pp. 1679-1685
    • Bulman, D.E.1
  • 8
    • 0033358806 scopus 로고    scopus 로고
    • Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 - And genetic heterogeneity
    • Durner M, Zhou G, Fu D, Abreu P, Shinnar S, Resor SR, et al. Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 - and genetic heterogeneity. Am J Hum Genet 1999; 64 : 1411-19.
    • (1999) Am J Hum Genet , vol.64 , pp. 1411-1419
    • Durner, M.1    Zhou, G.2    Fu, D.3    Abreu, P.4    Shinnar, S.5    Resor, S.R.6
  • 9
    • 0033055535 scopus 로고    scopus 로고
    • Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp : Delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    • Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp : delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999; 45 : 344-52.
    • (1999) Ann Neurol , vol.45 , pp. 344-352
    • Guerrini, R.1    Bonanni, P.2    Nardocci, N.3    Parmeggiani, L.4    Piccirilli, M.5    De Fusco, M.6
  • 10
    • 0027525688 scopus 로고
    • Concordance of clinical forms of epilepsy in families with several affected members
    • Italian League against Epilepsy Genetic Collaborative Group. Concordance of clinical forms of epilepsy in families with several affected members. Epilepsia 1993; 34 : 819-826.
    • (1993) Epilepsia , vol.34 , pp. 819-826
  • 11
    • 0033139855 scopus 로고    scopus 로고
    • Benign epileptic seizures in infancy followed by paroxysmal choreoathetosis during adolescence
    • Koch C, Bednarek N, Motte J. Benign epileptic seizures in infancy followed by paroxysmal choreoathetosis during adolescence. Epileptic disorders 1999; 1 : 141-42.
    • (1999) Epileptic Disorders , vol.1 , pp. 141-142
    • Koch, C.1    Bednarek, N.2    Motte, J.3
  • 13
    • 0033361895 scopus 로고    scopus 로고
    • Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33
    • Moulard B, Guipponi M, Chaigne D, Mouthon D, Buresi C, Malafosse A. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet 1999 ; 65 : 1396-1400.
    • (1999) Am J Hum Genet , vol.65 , pp. 1396-1400
    • Moulard, B.1    Guipponi, M.2    Chaigne, D.3    Mouthon, D.4    Buresi, C.5    Malafosse, A.6
  • 14
    • 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, Dalprà L, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 1998; 121 : 205-23.
    • (1998) Brain , vol.121 , pp. 205-223
    • Oldani, A.1    Zucconi, M.2    Asselta, R.3    Modugno, M.4    Bonati, M.T.5    Dalprà, L.6
  • 16
    • 0032231423 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy : Genetic heterogeneity and evidence for a second locus at 15q24
    • Phillips HA, Scheffer IE, Grassland KM, Bhatia KP, Fish DR, Marsden CD, et al. Autosomal dominant nocturnal frontal lobe epilepsy : genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998; 63 : 1101-9.
    • (1998) Am J Hum Genet , vol.63 , pp. 1101-1109
    • Phillips, H.A.1    Scheffer, I.E.2    Grassland, K.M.3    Bhatia, K.P.4    Fish, D.R.5    Marsden, C.D.6
  • 17
    • 0002635506 scopus 로고    scopus 로고
    • Channelopathies : Ion channels and paroxysmal disorders of the nervous system
    • SF Berkovic, P Genton, E Hirsch, F Picard, ed. London : John Libbey
    • Ptácek LJ. Channelopathies : ion channels and paroxysmal disorders of the nervous system. In : SF Berkovic, P Genton, E Hirsch, F Picard, ed. Genetics of focal epilepsies. London : John Libbey, 1999 : 203-14.
    • (1999) Genetics of Focal Epilepsies , pp. 203-214
    • Ptácek, L.J.1
  • 20
    • 0030943313 scopus 로고    scopus 로고
    • Generalised epilepsy with febrile seizures plus - A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer IE, Berkovic SF. Generalised epilepsy with febrile seizures plus - a genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120 : 479-90.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 22
    • 0342435720 scopus 로고
    • Autosomal dominant partial epilepsy with variable foci is not allelic with autosomal dominant nocturnal frontal lobe epilepsy
    • Scheffer IE, Phillips H, Mulley J, Sutherland G, Harvey AS, Hopkins IJ, et al. Autosomal dominant partial epilepsy with variable foci is not allelic with autosomal dominant nocturnal frontal lobe epilepsy (abstract). Epilepsia 1995b; 36 (Suppl 3) : S28.
    • (1995) Epilepsia , vol.36 , Issue.3 SUPPL.
    • Scheffer, I.E.1    Phillips, H.2    Mulley, J.3    Sutherland, G.4    Harvey, A.S.5    Hopkins, I.J.6
  • 23
    • 0031767813 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci : A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
    • Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennall JA, Wallace RH, et al. Familial partial epilepsy with variable foci : a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998; 44 : 890-9.
    • (1998) Ann Neurol , vol.44 , pp. 890-899
    • Scheffer, I.E.1    Phillips, H.A.2    O'Brien, C.E.3    Saling, M.M.4    Wrennall, J.A.5    Wallace, R.H.6
  • 25
    • 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, DuPont BR, Leach RJ, Melis R, 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    DuPont, B.R.4    Leach, R.J.5    Melis, R.6
  • 26
    • 0032953159 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus : A common childhood-onset genetic epilepsy syndrome
    • Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus : a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999a; 45 : 75-81.
    • (1999) Ann Neurol , vol.45 , pp. 75-81
    • Singh, R.1    Scheffer, I.E.2    Crossland, K.3    Berkovic, S.F.4
  • 28
    • 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. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet 1995; 11 : 201-03.
    • (1995) Nature 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
  • 29
    • 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, Bertrand S, Weiland S, Berkovic SF, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997; 6 : 943-47.
    • (1997) Hum Mol Genet , vol.6 , pp. 943-947
    • Steinlein, O.K.1    Magnusson, A.2    Stoodt, J.3    Bertrand, S.4    Weiland, S.5    Berkovic, S.F.6
  • 30
    • 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. Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997; 61 : 889-98.
    • (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
  • 32
    • 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, Villarroel A, Propping P, Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. Febs Lett 1996; 398 : 91-96.
    • (1996) Febs Lett , vol.398 , pp. 91-96
    • Weiland, S.1    Witzemann, V.2    Villarroel, A.3    Propping, P.4    Steinlein, O.5
  • 34
    • 0032895470 scopus 로고    scopus 로고
    • A novel mutation in the human voltage-gated potassium channel gene (Kv1.1.) associates with episodic ataxia type 1 and sometimes with partial epilepsy
    • Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW et al. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1.) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 1999; 122 : 817-25.
    • (1999) Brain , vol.122 , pp. 817-825
    • Zuberi, S.M.1    Eunson, L.H.2    Spauschus, A.3    De Silva, R.4    Tolmie, J.5    Wood, N.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.