-
1
-
-
0033364824
-
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
-
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
-
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
-
4
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
BIEVERT C, SCHOEDER BC, KUBISCH C, BERKOVIC SF, PROPPING P, JENTSCH TJ, STEINLEIN OK. (1998). A potassium channel mutation in neonatal human epilepsy. Science, 279: 403-406.
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Bievert, C.1
Schoeder, B.C.2
Kubisch, C.3
Berkovic, S.F.4
Propping, P.5
Jentsch, T.J.6
Steinlein, O.K.7
-
5
-
-
0023063764
-
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
-
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
-
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
-
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
-
9
-
-
0002227438
-
L'épilepsie myoclonique sévère du nourrisson
-
Roger J, Bureau M, Dravet C, Dreifuss FE, Wolf P, Perret A. (eds), John Libbey. London-Paris
-
e édition). pp. 75-88. John Libbey. London-Paris.
-
(1992)
e Édition)
, pp. 75-88
-
-
Dravet, C.1
Bureau, M.2
Guerrini, R.3
Giraud, N.4
Roger, J.5
-
10
-
-
0034069651
-
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
-
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
-
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
-
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
-
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
-
15
-
-
0033912108
-
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2
-
LOPES-CENDES, SCHEFFER IE, BERKOVIC SF, ROUSSEAU M, ANDERMANN E, ROULEAU GA. (2000). A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. Am J Hum Genet, 66:698-701.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 698-701
-
-
Lopes-Cendes1
Scheffer, I.E.2
Berkovic, S.F.3
Rousseau, M.4
Andermann, E.5
Rouleau, G.A.6
-
16
-
-
0033361895
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|