-
1
-
-
0007673374
-
Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy
-
Metrakos K, Metrakos JD. Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy. Neurology 11, 474-483 (1961).
-
(1961)
Neurology
, vol.11
, pp. 474-483
-
-
Metrakos, K.1
Metrakos, J.D.2
-
2
-
-
18344384217
-
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels,and the ECA1 region on chromosome 8q
-
Robinson R, Taske N, Sander T et al. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels,and the ECA1 region on chromosome 8q. Epilepsy Res. 48, 169-179 (2002).
-
(2002)
Epilepsy Res
, vol.48
, pp. 169-179
-
-
Robinson, R.1
Taske, N.2
Sander, T.3
-
3
-
-
0032231907
-
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: Linkage to chromosome 8q24
-
Fong GC, Shah PU, Gee MN et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am. J. Hum. Genet. 63, 1117-1129 (1998).
-
(1998)
Am. J. Hum. Genet
, vol.63
, pp. 1117-1129
-
-
Fong, G.C.1
Shah, P.U.2
Gee, M.N.3
-
4
-
-
0035033520
-
2-subunit in childhood absence epilepsy and febrile seizures
-
2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28, 49-52 (2001).
-
(2001)
Nat. Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
-
5
-
-
0041343159
-
Association between genetic variation of CACNA1H and childhood absence epilepsy
-
Chen Y, Lu J, Pan H et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann. Neurol. 54, 239-243 (2003).
-
(2003)
Ann. Neurol
, vol.54
, pp. 239-243
-
-
Chen, Y.1
Lu, J.2
Pan, H.3
-
6
-
-
18544364797
-
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
-
Cossette P, Liu L, Brisebois K et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31, 184-189 (2002).
-
(2002)
Nat. Genet
, vol.31
, pp. 184-189
-
-
Cossette, P.1
Liu, L.2
Brisebois, K.3
-
7
-
-
23044441989
-
Molecular analysis of the A322D mutation in the GABA receptor α-subunit causing juvenile myoclonic epilepsy
-
Krampfl K, Maljevic S, Cossette P et al. Molecular analysis of the A322D mutation in the GABA receptor α-subunit causing juvenile myoclonic epilepsy. Eur. J. Neurosci. 22, 10-20 (2005).
-
(2005)
Eur. J. Neurosci
, vol.22
, pp. 10-20
-
-
Krampfl, K.1
Maljevic, S.2
Cossette, P.3
-
8
-
-
0344091562
-
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
-
Haug K, Warnstedt M, Alekov AK et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat. Genet. 33, 527-532 (2003).
-
(2003)
Nat. Genet
, vol.33
, pp. 527-532
-
-
Haug, K.1
Warnstedt, M.2
Alekov, A.K.3
-
9
-
-
3543026306
-
Mutations in EFHC1 cause juvenile myoclonic epilepsy
-
Suzuki T, Delgado-Escueta AV, Aguan K et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat. Genet. 36, 842-849 (2004).
-
(2004)
Nat. Genet
, vol.36
, pp. 842-849
-
-
Suzuki, T.1
Delgado-Escueta, A.V.2
Aguan, K.3
-
10
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
-
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120(Pt 3), 479-490 (1997).
-
(1997)
Brain
, vol.120
, Issue.PART 3
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
11
-
-
0032953159
-
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. 45, 75-81 (1999).
-
(1999)
Ann. Neurol
, vol.45
, pp. 75-81
-
-
Singh, R.1
Scheffer, I.E.2
Crossland, K.3
Berkovic, S.F.4
-
12
-
-
0033364824
-
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
-
Baulac S, Gourfinkel-An I, Picard F et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am. J. Hum. Genet. 65, 1078-1085 (1999).
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1078-1085
-
-
Baulac, S.1
Gourfinkel-An, I.2
Picard, F.3
-
19
-
-
0141653010
-
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
-
Audenaert D, Claes L, Ceulemans B, Lofgren A, Van Broeckhoven C, De Jonghe P. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 61, 854-856 (2003).
-
(2003)
Neurology
, vol.61
, pp. 854-856
-
-
Audenaert, D.1
Claes, L.2
Ceulemans, B.3
Lofgren, A.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
20
-
-
0035956488
-
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil B, Ge Q, Desai R et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57, 2265-2272 (2001).
-
(2001)
Neurology
, vol.57
, pp. 2265-2272
-
-
Abou-Khalil, B.1
Ge, Q.2
Desai, R.3
-
21
-
-
0037115031
-
1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
-
1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J. Neurosci. 22, 10699-10709 (2002).
-
(2002)
J. Neurosci
, vol.22
, pp. 10699-10709
-
-
Meadows, L.S.1
Malhotra, J.2
Loukas, A.3
-
22
-
-
0035478007
-
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
-
Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J. Neurosci. 21, 7481-7490 (2001).
-
(2001)
J. Neurosci
, vol.21
, pp. 7481-7490
-
-
Spampanato, J.1
Escayg, A.2
Meisler, M.H.3
Goldin, A.L.4
-
23
-
-
0347479237
-
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
-
Lossin C, Rhodes TH, Desai RR et al. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J. Neurosci. 23, 11289-11295 (2003).
-
(2003)
J. Neurosci
, vol.23
, pp. 11289-11295
-
-
Lossin, C.1
Rhodes, T.H.2
Desai, R.R.3
-
24
-
-
0037071896
-
Molecular basis of an inherited epilepsy
-
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. Molecular basis of an inherited epilepsy. Neuron 34, 877-884 (2002).
-
(2002)
Neuron
, vol.34
, pp. 877-884
-
-
Lossin, C.1
Wang, D.W.2
Rhodes, T.H.3
Vanoye, C.G.4
George Jr., A.L.5
-
26
-
-
20844446135
-
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction
-
Spampanato J, Kearney JA, de Haan G et al. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction. J. Neurosci. 24, 10022-10034 (2004).
-
(2004)
J. Neurosci
, vol.24
, pp. 10022-10034
-
-
Spampanato, J.1
Kearney, J.A.2
de Haan, G.3
-
27
-
-
0000737282
-
Les epilepsies graves de l'enfant
-
Dravet C. Les epilepsies graves de l'enfant. Vie Médicale 8, 543-548 (1978).
-
(1978)
Vie Médicale
, vol.8
, pp. 543-548
-
-
Dravet, C.1
-
28
-
-
33845956438
-
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
-
Jansen FE, Sadleir LG, Harkin LA et al. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology 67, 2224-2226 (2006).
-
(2006)
Neurology
, vol.67
, pp. 2224-2226
-
-
Jansen, F.E.1
Sadleir, L.G.2
Harkin, L.A.3
-
29
-
-
0345304764
-
Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?
-
Ohmori I, Ohtsuka Y, Ouchida M et al. Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Brain Dev. 25, 488-493 (2003).
-
(2003)
Brain Dev
, vol.25
, pp. 488-493
-
-
Ohmori, I.1
Ohtsuka, Y.2
Ouchida, M.3
-
30
-
-
0036304363
-
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
-
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 295, 17-23 (2002).
-
(2002)
Biochem. Biophys. Res. Commun
, vol.295
, pp. 17-23
-
-
Ohmori, I.1
Ouchida, M.2
Ohtsuka, Y.3
Oka, E.4
Shimizu, K.5
-
31
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58, 1122-1124 (2002).
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
-
32
-
-
0344672944
-
Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
Fujiwara T, Sugawara T, Mazaki-Miyazaki E et al. Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126, 531-546 (2003).
-
(2003)
Brain
, vol.126
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
-
33
-
-
10744227466
-
1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
-
1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 45, 140-148 (2004).
-
(2004)
Epilepsia
, vol.45
, pp. 140-148
-
-
Fukuma, G.1
Oguni, H.2
Shirasaka, Y.3
-
34
-
-
33947123754
-
The spectrum of SCN1A-related infantile epileptic encephalopathies
-
Harkin LA, McMahon JM, Iona X et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130, 843-852 (2007).
-
(2007)
Brain
, vol.130
, pp. 843-852
-
-
Harkin, L.A.1
McMahon, J.M.2
Iona, X.3
-
35
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327-1332 (2001).
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
36
-
-
20344392182
-
SCN1A mutations and epilepsy
-
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum. Mutat. 25, 535-542 (2005).
-
(2005)
Hum. Mutat
, vol.25
, pp. 535-542
-
-
Mulley, J.C.1
Scheffer, I.E.2
Petrou, S.3
Dibbens, L.M.4
Berkovic, S.F.5
Harkin, L.A.6
-
37
-
-
33749675112
-
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
-
Depienne C, Arzimanoglou A, Trouillard O et al. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum. Mutat. 27, 389 (2006).
-
(2006)
Hum. Mutat
, vol.27
, pp. 389
-
-
Depienne, C.1
Arzimanoglou, A.2
Trouillard, O.3
-
38
-
-
31444454192
-
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
-
Gennaro E, Santorelli FM, Bertini et al. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem. Biophys. Res. Commun. 341, 489-493 (2006).
-
(2006)
Biochem. Biophys. Res. Commun
, vol.341
, pp. 489-493
-
-
Gennaro, E.1
Santorelli, F.M.2
Bertini3
-
39
-
-
33749661352
-
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
-
Marini C, Mei D, Helen Cross J, Guerrini R. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 47, 1737-1740 (2006).
-
(2006)
Epilepsia
, vol.47
, pp. 1737-1740
-
-
Marini, C.1
Mei, D.2
Helen Cross, J.3
Guerrini, R.4
-
40
-
-
33749678419
-
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
-
Morimoto M, Mazaki E, Nishimura A et al. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47, 1732-1736 (2006).
-
(2006)
Epilepsia
, vol.47
, pp. 1732-1736
-
-
Morimoto, M.1
Mazaki, E.2
Nishimura, A.3
-
41
-
-
0036155260
-
2 subunit in a family with generalized epilepsy with febrile seizures plus
-
2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70, 530-536 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.70
, pp. 530-536
-
-
Harkin, L.A.1
Bowser, D.N.2
Dibbens, L.M.3
-
42
-
-
0028900303
-
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 118(Pt 1), 61-73 (1995).
-
(1995)
Brain
, vol.118
, Issue.PART 1
, pp. 61-73
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
-
43
-
-
0033854176
-
-
Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann. Neurol. 48, 264-267 (2000).
-
Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann. Neurol. 48, 264-267 (2000).
-
-
-
-
44
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
-
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat. Genet. 10, 117-118 (1995).
-
(1995)
Nat. Genet
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
Hollway, G.E.4
Sutherland, G.R.5
Mulley, J.C.6
-
45
-
-
0028980028
-
4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11, 201-203 (1995).
-
(1995)
Nat. Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
47
-
-
0035163074
-
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Phillips HA, Favre I, Kirkpatrick M et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet. 68, 225-231 (2001).
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 225-231
-
-
Phillips, H.A.1
Favre, I.2
Kirkpatrick, M.3
-
48
-
-
0032231423
-
Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
-
Phillips HA, Scheffer IE, Crossland KM et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63, 1108-1116 (1998).
-
(1998)
Am. J. Hum. Genet
, vol.63
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Crossland, K.M.3
-
49
-
-
18544363940
-
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
-
Bonati MT, Combi R, Asselta R et al. Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families. J. Neurol. 249, 967-974 (2002).
-
(2002)
J. Neurol
, vol.249
, pp. 967-974
-
-
Bonati, M.T.1
Combi, R.2
Asselta, R.3
-
50
-
-
0031760549
-
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy
-
Bertrand S, Weiland S, Berkovic SF, Steinlein OK, Bertrand D. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br. J. Pharmacol. 125, 751-760 (1998).
-
(1998)
Br. J. Pharmacol
, vol.125
, pp. 751-760
-
-
Bertrand, S.1
Weiland, S.2
Berkovic, S.F.3
Steinlein, O.K.4
Bertrand, D.5
-
52
-
-
0345003726
-
Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q
-
Poza JJ, Saenz A, Martinez-Gil A et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann. Neurol. 45, 182-188 (1999).
-
(1999)
Ann. Neurol
, vol.45
, pp. 182-188
-
-
Poza, J.J.1
Saenz, A.2
Martinez-Gil, A.3
-
53
-
-
0034643891
-
Autosomal dominant partial epilepsy with auditory features: Defining the phenotype
-
Winawer MR, Ottman R, Hauser WA, Pedley TA. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology 54, 2173-2176 (2000).
-
(2000)
Neurology
, vol.54
, pp. 2173-2176
-
-
Winawer, M.R.1
Ottman, R.2
Hauser, W.A.3
Pedley, T.A.4
-
54
-
-
0345303660
-
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras
-
Kobayashi E, Santos NF, Torres FR et al. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch. Neurol. 60, 1546-1551 (2003).
-
(2003)
Arch. Neurol
, vol.60
, pp. 1546-1551
-
-
Kobayashi, E.1
Santos, N.F.2
Torres, F.R.3
-
55
-
-
0029059069
-
Localization of a gene for partial epilepsy to chromosome 10q
-
Ottman R, Risch N, Hauser WA et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat. Genet. 10, 56-60 (1995).
-
(1995)
Nat. Genet
, vol.10
, pp. 56-60
-
-
Ottman, R.1
Risch, N.2
Hauser, W.A.3
-
56
-
-
18544376557
-
Mutations in LGI1 cause autosomaldominant partial epilepsy with auditory features
-
Kalachikov S, Evgrafov O, Ross B et al. Mutations in LGI1 cause autosomaldominant partial epilepsy with auditory features. Nat. Genet. 30, 335-341 (2002).
-
(2002)
Nat. Genet
, vol.30
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
-
57
-
-
18344363561
-
Mutations in the LGI1/epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
-
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S et al. Mutations in the LGI1/epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum. Mol. Genet. 11, 1119-1128 (2002)
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 1119-1128
-
-
Morante-Redolat, J.M.1
Gorostidi-Pagola, A.2
Piquer-Sirerol, S.3
-
58
-
-
0142136078
-
Autosomal dominant lateral temporal epilepsy: Clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families
-
Michelucci R, Poza JJ, Sofia V et al. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia 44, 1289-1297 (2003).
-
(2003)
Epilepsia
, vol.44
, pp. 1289-1297
-
-
Michelucci, R.1
Poza, J.J.2
Sofia, V.3
-
59
-
-
1842580632
-
LGI1 mutations in autosomal dominant partial epilepsy with auditory features
-
Ottman R, Winawer MR, Kalachikov S et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 62, 1120-1126 (2004).
-
(2004)
Neurology
, vol.62
, pp. 1120-1126
-
-
Ottman, R.1
Winawer, M.R.2
Kalachikov, S.3
-
60
-
-
2942588984
-
Idiopathic partial epilepsy with auditory features (IPEAF): A clinical and genetic study of 53 sporadic cases
-
Bisulli F, Tinuper P, Avoni P et al. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 127, 1343-1352 (2004).
-
(2004)
Brain
, vol.127
, pp. 1343-1352
-
-
Bisulli, F.1
Tinuper, P.2
Avoni, P.3
-
61
-
-
4444368505
-
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features
-
Bisulli F, Tinuper P, Scudellaro E et al. A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. Ann. Neurol. 56, 455-456 (2004).
-
(2004)
Ann. Neurol
, vol.56
, pp. 455-456
-
-
Bisulli, F.1
Tinuper, P.2
Scudellaro, E.3
-
62
-
-
21244505337
-
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
-
Senechal KR, Thaller C, Noebels JL. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum. Mol. Genet. 14, 1613-1620 (2005).
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 1613-1620
-
-
Senechal, K.R.1
Thaller, C.2
Noebels, J.L.3
-
63
-
-
33749038646
-
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission
-
Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 313, 1792-1795 (2006).
-
(2006)
Science
, vol.313
, pp. 1792-1795
-
-
Fukata, Y.1
Adesnik, H.2
Iwanaga, T.3
Bredt, D.S.4
Nicoll, R.A.5
Fukata, M.6
-
64
-
-
33751355664
-
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface
-
Sirerol-Piquer MS, Ayerdi-Izquierdo A, Morante-Redolat JM et al. The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. Hum. Mol. Genet. 15, 3436-3445 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 3436-3445
-
-
Sirerol-Piquer, M.S.1
Ayerdi-Izquierdo, A.2
Morante-Redolat, J.M.3
-
65
-
-
33344456574
-
The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvβ1
-
Schulte U, Thumfart JO, Klocker N et al. The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvβ1. Neuron 49, 697-706 (2006).
-
(2006)
Neuron
, vol.49
, pp. 697-706
-
-
Schulte, U.1
Thumfart, J.O.2
Klocker, N.3
-
66
-
-
33745877158
-
The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain
-
Furlan S, Roncaroli F, Forner F et al. The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain. J. Neurochem. 98, 985-991 (2006).
-
(2006)
J. Neurochem
, vol.98
, pp. 985-991
-
-
Furlan, S.1
Roncaroli, F.2
Forner, F.3
-
67
-
-
0033362028
-
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
-
Xiong L, Labuda M, Li DS et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am. J. Hum. Genet. 65, 1698-1710 (1999).
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1698-1710
-
-
Xiong, L.1
Labuda, M.2
Li, D.S.3
-
68
-
-
4544255725
-
Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12
-
Berkovic SF, Serratosa JM, Phillips HA et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 45, 1054-1060 (2004).
-
(2004)
Epilepsia
, vol.45
, pp. 1054-1060
-
-
Berkovic, S.F.1
Serratosa, J.M.2
Phillips, H.A.3
-
69
-
-
0031767813
-
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 et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann. Neurol. 44, 890-899 (1998).
-
(1998)
Ann. Neurol
, vol.44
, pp. 890-899
-
-
Scheffer, I.E.1
Phillips, H.A.2
O'Brien, C.E.3
-
70
-
-
0142104303
-
Familial partial epilepsy with variable foci in a Dutch family: Clinical characteristics and confirmation of linkage to chromosome 22q
-
Callenbach PM, van den Maagdenberg AM, Hottenga JJ et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 44, 1298-1305 (2003).
-
(2003)
Epilepsia
, vol.44
, pp. 1298-1305
-
-
Callenbach, P.M.1
van den Maagdenberg, A.M.2
Hottenga, J.J.3
-
71
-
-
0000397944
-
Neugeborenenkrampfe im Rhamen einer epileptisch belasten Familie
-
Rett A, Teubel R. Neugeborenenkrampfe im Rhamen einer epileptisch belasten Familie. Wien. Klein. Wochenschr. 76, 609-612 (1964).
-
(1964)
Wien. Klein. Wochenschr
, vol.76
, pp. 609-612
-
-
Rett, A.1
Teubel, R.2
-
72
-
-
33745286460
-
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years
-
de Haan GJ, Pinto D, Carton D et al. A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years. Epilepsia 47, 851-859 (2006).
-
(2006)
Epilepsia
, vol.47
, pp. 851-859
-
-
de Haan, G.J.1
Pinto, D.2
Carton, D.3
-
73
-
-
0027292974
-
Seizure characteristics in chromosome 20 benign familial neonatal convulsions
-
Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 43, 1355-1360 (1993).
-
(1993)
Neurology
, vol.43
, pp. 1355-1360
-
-
Ronen, G.M.1
Rosales, T.O.2
Connolly, M.3
Anderson, V.E.4
Leppert, M.5
-
74
-
-
0032536030
-
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 279, 403-406 (1998).
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Biervert, C.1
Schroeder, B.C.2
Kubisch, C.3
-
75
-
-
0031974209
-
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. 18, 53-55 (1998).
-
(1998)
Nat. Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
-
76
-
-
17344372328
-
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. 18, 25-29 (1998).
-
(1998)
Nat. Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
77
-
-
10444290761
-
De novo KCNQ2 mutations in patients with benign neonatal seizures
-
Claes LR, Ceulemans B, Audenaert D et al. De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology 63, 2155-2158 (2004).
-
(2004)
Neurology
, vol.63
, pp. 2155-2158
-
-
Claes, L.R.1
Ceulemans, B.2
Audenaert, D.3
-
78
-
-
0034283908
-
+ channels and the molecular pathogenesis of epilepsy: Implications for therapy
-
+ channels and the molecular pathogenesis of epilepsy: implications for therapy. Trends Neurosci. 23, 393-398 (2000).
-
(2000)
Trends Neurosci
, vol.23
, pp. 393-398
-
-
Rogawski, M.A.1
-
79
-
-
0031768841
-
The KCNQ2 potassium channel: Splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3
-
Tinel N, Lauritzen I, Chouabe C, Lazdunski M, Borsotto M. The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. FEBS Lett. 438, 171-176 (1998).
-
(1998)
FEBS Lett
, vol.438
, pp. 171-176
-
-
Tinel, N.1
Lauritzen, I.2
Chouabe, C.3
Lazdunski, M.4
Borsotto, M.5
-
80
-
-
0021015011
-
Benign familial neonatal-infantile seizures
-
Kaplan RE, Lacey DJ. Benign familial neonatal-infantile seizures. Am. J. Med. Genet. 16, 595-599 (1983).
-
(1983)
Am. J. Med. Genet
, vol.16
, pp. 595-599
-
-
Kaplan, R.E.1
Lacey, D.J.2
-
81
-
-
12144285702
-
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
-
Berkovic SF, Heron SE, Giordano L et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann. Neurol. 55, 550-557 (2004).
-
(2004)
Ann. Neurol
, vol.55
, pp. 550-557
-
-
Berkovic, S.F.1
Heron, S.E.2
Giordano, L.3
-
82
-
-
33749515473
-
+ channel causing benign familial neonatal-infantile seizures
-
+ channel causing benign familial neonatal-infantile seizures. J. Neurosci. 26, 10100-10109 (2006).
-
(2006)
J. Neurosci
, vol.26
, pp. 10100-10109
-
-
Scalmani, P.1
Rusconi, R.2
Armatura, E.3
-
83
-
-
33644802338
-
Analysis of genetically complex epilepsies
-
Ottman R. Analysis of genetically complex epilepsies. Epilepsia 46(Suppl. 10), 7-14 (2005).
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL. 10
, pp. 7-14
-
-
Ottman, R.1
-
84
-
-
0037399137
-
Channelopathies as a genetic cause of epilepsy
-
Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Channelopathies as a genetic cause of epilepsy. Curr. Opin. Neurol. 16, 171-176 (2003).
-
(2003)
Curr. Opin. Neurol
, vol.16
, pp. 171-176
-
-
Mulley, J.C.1
Scheffer, I.E.2
Petrou, S.3
Berkovic, S.F.4
-
85
-
-
2642583283
-
Mapping complex disease loci in whole-genome association studies
-
Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature 429, 446-452 (2004).
-
(2004)
Nature
, vol.429
, pp. 446-452
-
-
Carlson, C.S.1
Eberle, M.A.2
Kruglyak, L.3
Nickerson, D.A.4
-
86
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet. 6, 95-108 (2005).
-
(2005)
Nat. Rev. Genet
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
87
-
-
0031748082
-
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. 43, 435-445 (1998).
-
(1998)
Ann. Neurol
, vol.43
, pp. 435-445
-
-
Berkovic, S.F.1
Howell, R.A.2
Hay, D.A.3
Hopper, J.L.4
-
88
-
-
0029874439
-
Clinical indicators of genetic susceptibility to epilepsy
-
Ottman R, Lee JH, Risch N, Hauser WA, Susser M. Clinical indicators of genetic susceptibility to epilepsy. Epilepsia 37, 353-361 (1996).
-
(1996)
Epilepsia
, vol.37
, pp. 353-361
-
-
Ottman, R.1
Lee, J.H.2
Risch, N.3
Hauser, W.A.4
Susser, M.5
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