메뉴 건너뛰기




Volumn 159, Issue 2, 2003, Pages 189-195

GEFS + syndrome: Phenotypic variations from the newborn to the adult in a large French pedigree;Syndrome GEFS +: Variations phénotypiques du nourrisson à l'adulte dans une grande famille Française

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; PHENOBARBITAL; SODIUM CHANNEL; VALPROIC ACID;

EID: 0037292279     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (28)
  • 1
    • 0033364824 scopus 로고    scopus 로고
    • A second locus for familial generalised Epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    • BAULAC S, AN G, PICARD F et al. (1999). A second locus for familial generalised Epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet, 65: 1078-1085.
    • (1999) Am J Hum Genet , vol.65 , pp. 1078-1085
    • Baulac, S.1    An, G.2    Picard, F.3
  • 2
    • 0035030766 scopus 로고    scopus 로고
    • First geneticevidence of GABAa receptor dysfunction in epilepsy: A mutation in the γ subunit gene
    • BAULAC S, HUBERFELD G, GOURFINKEL-AN I et al. (2001). First geneticevidence of GABAa receptor dysfunction in epilepsy: a mutation in the γ subunit gene. Nature Genet, 28: 46-48.
    • (2001) Nature Genet , vol.28 , pp. 46-48
    • Baulac, S.1    Huberfeld, G.2    Gourfinkel-An, I.3
  • 3
    • 0002168139 scopus 로고
    • Le syndrome de Lennox-Gastaut
    • Roger J, Bureau M, Dravet C, Dreifuss FE, Wolf P, Perret A (eds), John Libbey. London-Paris
    • e édition), pp. 115-132. John Libbey. London-Paris.
    • (1992) e Édition) , pp. 115-132
    • Beaumanoir, A.1    Dravet, C.2
  • 5
    • 0023063764 scopus 로고
    • Genetic considerations in chilhood epilepsy
    • BIRD TD. (1987). Genetic considerations in chilhood epilepsy. Epilepsia, 28: S71-S81.
    • (1987) Epilepsia , vol.28
    • Bird, T.D.1
  • 6
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • CHARLIER C, SINGH NA, RYAN SG et al. (1998). A pore mutation in a a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet, 18: 53-55.
    • (1998) Nat Genet , vol.18 , pp. 53-55
    • Charlier, C.1    Singh, N.A.2    Ryan, S.G.3
  • 7
    • 0024317220 scopus 로고
    • Proposal for revised Classification of epilepsies and epileptic syndromes
    • COMMISION ON CLASSIFICATION AND TERMINOLOGY OF THE INTERNATIONAL LEAGUE AGAINST EPILEPSY. (1989). Proposal for revised Classification of epilepsies and epileptic syndromes. Epilepsia, 30: 389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 8
    • 0002046122 scopus 로고
    • L'épilepsie myoclono-astatique du jeune enfant
    • Roger J, Bureau M, Dravet C, Dreifuss FE, Wolf P, Perret A (eds), John Libbey. London-Paris
    • e édition). pp. 103-114. John Libbey. London-Paris.
    • (1992) e Édition) , pp. 103-114
    • Doose, H.1
  • 10
    • 0034069651 scopus 로고    scopus 로고
    • Mutation of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2
    • ESCAYAG A, MAC DONALD BT, MEISLER MH et al. (2000). Mutation of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2. Nature Genet, 24: 343-345.
    • (2000) Nature Genet , vol.24 , pp. 343-345
    • Escayag, A.1    Mac Donald, B.T.2    Meisler, M.H.3
  • 11
    • 0035071143 scopus 로고    scopus 로고
    • A novel SCN1A mutation associated with generalizes epilepsy with febrile seizure plus- and prevalence of variants in patient with epilepsy
    • ESCAYAG A, HEILS A, MAC DONALD BT, HAUG K, SANDER T, MEISLER MH. (2001). A novel SCN1A mutation associated with generalizes epilepsy with febrile seizure plus- and prevalence of variants in patient with epilepsy. Am J Hum Genet, 68: 866-873.
    • (2001) Am J Hum Genet , vol.68 , pp. 866-873
    • Escayag, A.1    Heils, A.2    Mac Donald, B.T.3    Haug, K.4    Sander, T.5    Meisler, M.H.6
  • 12
    • 0032894593 scopus 로고    scopus 로고
    • Limites du concept d'épilepsie généralisée idiopathique
    • GENTON P. (1999). Limites du concept d'épilepsie généralisée idiopathique. Rev Neurol, 155: 121-128.
    • (1999) Rev Neurol , vol.155 , pp. 121-128
    • Genton, P.1
  • 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'DONOVANCA 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: 63-67.
    • (1998) Hum Mol Genet , vol.7 , pp. 63-67
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3    O'Donovanca4
  • 14
    • 16944365407 scopus 로고    scopus 로고
    • Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
    • LALIOTI MD, MIROTSOU M, BURESI C et al. (1997). Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet, 60: 342-351.
    • (1997) Am J Hum Genet , vol.60 , pp. 342-351
    • Lalioti, M.D.1    Mirotsou, M.2    Buresi, C.3
  • 16
    • 0033361895 scopus 로고    scopus 로고
    • Identification of a new locus for generalized epilepsy with febrile seizures plus on chromosome 2q24-q33
    • MOULARD B, GUIPPONI M, CHAIGNE D, MOUTHON D, BURESI C, MALAFOSSE A. (1999). Identification of a new locus for generalized epilepsy with febrile seizures plus on chromosome 2q24-q33. Am J Hum Genet, 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
  • 17
    • 17344375789 scopus 로고    scopus 로고
    • Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
    • NAKAYAMA J, HAMANO K, IWASAKI N et al. (2000). Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet, 9: 87-91.
    • (2000) Hum Mol Genet , vol.9 , pp. 87-91
    • Nakayama, J.1    Hamano, K.2    Iwasaki, N.3
  • 18
    • 0001854441 scopus 로고
    • Febrile convulsions
    • Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds), John Libbey. London
    • e édition). pp. 45-52. John Libbey. London.
    • (1992) e Édition) , pp. 45-52
    • O'Donohoe, N.V.1
  • 19
    • 0032834017 scopus 로고    scopus 로고
    • A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
    • PEIFFER A, THOMPSON J, CHARLIER C et al. (1999). A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol, 46: 671-678.
    • (1999) Ann Neurol , vol.46 , pp. 671-678
    • Peiffer, A.1    Thompson, J.2    Charlier, C.3
  • 20
    • 13344269666 scopus 로고    scopus 로고
    • Mutation in the gene encoding cystatin B in progressive myoclonus epilepsy
    • PENNACCHIO LA, LEHESJOKI AE, STONE NE et al. (1996). Mutation in the gene encoding cystatin B in progressive myoclonus epilepsy. Science, 271: 1731-1734.
    • (1996) Science , vol.271 , pp. 1731-1734
    • Pennacchio, L.A.1    Lehesjoki, A.E.2    Stone, N.E.3
  • 21
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • SCHEFFER IE, BERKOVIC SF. (1997). Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain, 120: 479-490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 22
    • 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 S. (1999). Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol, 45: 75-81.
    • (1999) Ann Neurol , vol.45 , pp. 75-81
    • Singh, R.1    Scheffer, I.E.2    Crossland, K.3    Berkovic, S.4
  • 23
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene in a idiopathic epilepsy family
    • SINGH NA, CHARLIER C, STAUFFER D et al. (1998). A novel potassium channel gene in a idiopathic epilepsy family. Nature Genet, 18: 25-29.
    • (1998) Nature Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3
  • 24
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acethylcholine receptor α4 subunit is associated with autosomal dominant noctural frontal lobe epilepsy
    • STEINLEIN OK, SCHUSTER V, FISCHER C, HAUSSLER M. (1995a). A missense mutation in the neuronal nicotinic acethylcholine receptor α4 subunit is associated with autosomal dominant noctural frontal lobe epilepsy. Nat Genet, 11: 201-204.
    • (1995) Nat Genet , vol.11 , pp. 201-204
    • Steinlein, O.K.1    Schuster, V.2    Fischer, C.3    Haussler, M.4
  • 25
    • 0028986844 scopus 로고
    • Benign familial neonatal convulsions: Confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q
    • STEINLEIN OK, SCHUSTER V, FISCHER C, HAUSSLER M. (1995b). Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. Hum Genet, 95: 411-415.
    • (1995) Hum Genet , vol.95 , pp. 411-415
    • Steinlein, O.K.1    Schuster, V.2    Fischer, C.3    Haussler, M.4
  • 26
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalized epilepsy associated with a mutation in the Na ±channel β1 subunit gene SCN1B
    • WALLACE RH, WANG DW, SINGH R et al. (1998). Febrile seizures and generalized epilepsy associated with a mutation in the Na +-channel β1 subunit gene SCN1B. Nature Genet, 19: 366-370.
    • (1998) Nature Genet , vol.19 , pp. 366-370
    • Wallace, R.H.1    Wang, D.W.2    Singh, R.3
  • 27
    • 0035074294 scopus 로고    scopus 로고
    • Neuronal sodium-channel α1-subunit mutations in the generalized epilepsy with febrile seizure plus
    • WALLACE RH, SINGH R, SCHEFFER IE et al. (2001a). Neuronal sodium-channel α1-subunit mutations in the generalized epilepsy with febrile seizure plus. Am J Hum Genet, 68: 859-865.
    • (2001) Am J Hum Genet , vol.68 , pp. 859-865
    • Wallace, R.H.1    Singh, R.2    Scheffer, I.E.3
  • 28
    • 0035033520 scopus 로고    scopus 로고
    • Mutant GABA receptor γ2-subunit in chilhood absence epilepsy and febrile seizures
    • WALLACE RH, MARINI C, PETROU S et al. (2001b). Mutant GABA receptor γ2-subunit in chilhood absence epilepsy and febrile seizures. Nature genetics, 28: 49-52.
    • (2001) Nature Genetics , vol.28 , pp. 49-52
    • Wallace, R.H.1    Marini, C.2    Petrou, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.