-
1
-
-
0026442417
-
Seizure disorders: The changes with age
-
Hauser WA. Seizure disorders: the changes with age. Epilepsia 1992;33:S6-14.
-
(1992)
Epilepsia
, vol.33
-
-
Hauser, W.A.1
-
2
-
-
18644370395
-
ILAE genetics commission conference report: Molecular analysis of complex genetic epilepsies
-
Anderson E, Berkovic S, Dulac O, et al. ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies. Epilepsia 2002;43:1262-7.
-
(2002)
Epilepsia
, vol.43
, pp. 1262-1267
-
-
Anderson, E.1
Berkovic, S.2
Dulac, O.3
-
3
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001;291:1304-51.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
-
4
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
Waterston RH, Lindblad-Toh K, Birney E, et al. Initial sequencing and comparative analysis of the mouse genome. Nature 2002;420:520-62.
-
(2002)
Nature
, vol.420
, pp. 520-562
-
-
Waterston, R.H.1
Lindblad-Toh, K.2
Birney, E.3
-
5
-
-
0030070426
-
Targeting epilepsy genes
-
Noebels JL. Targeting epilepsy genes. Neuron 1996;16:241-4.
-
(1996)
Neuron
, vol.16
, pp. 241-244
-
-
Noebels, J.L.1
-
6
-
-
0035828406
-
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
-
Jouvenceau A, Eunson LH, Spauschus A, et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001;358:801-7.
-
(2001)
Lancet
, vol.358
, pp. 801-807
-
-
Jouvenceau, A.1
Eunson, L.H.2
Spauschus, A.3
-
7
-
-
0033910736
-
4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000;66:1531-9.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1531-1539
-
-
Escayg, A.1
De Waard, M.2
Lee, D.D.3
-
8
-
-
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 2002;31:184-9.
-
(2002)
Nat Genet
, vol.31
, pp. 184-189
-
-
Cossette, P.1
Liu, L.2
Brisebois, K.3
-
9
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
-
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001;68:866-73.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
12
-
-
14344277590
-
+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
-
+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA 2001;98:6384-9.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 6384-6389
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Agarwala, K.L.3
-
13
-
-
0037077834
-
Sodium-channel defects in benign familial neonatal-infantile seizures
-
Heron SE, Crossland KM, Andermann E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-2.
-
(2002)
Lancet
, vol.360
, pp. 851-852
-
-
Heron, S.E.1
Crossland, K.M.2
Andermann, E.3
-
14
-
-
0033588810
-
(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain
-
(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J Comp Neurol 1999;412:342-52.
-
(1999)
J Comp Neurol
, vol.412
, pp. 342-352
-
-
Gong, B.1
Rhodes, K.J.2
Bekele-Arcuri, Z.3
Trimmer, J.S.4
-
15
-
-
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 2002;34:877-84.
-
(2002)
Neuron
, vol.34
, pp. 877-884
-
-
Lossin, C.1
Wang, D.W.2
Rhodes, T.H.3
Vanoye, C.G.4
George A.L., Jr.5
-
16
-
-
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 2002;58:1122-4.
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
-
17
-
-
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 2002;295:17-23.
-
(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
-
18
-
-
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 2001;68:1327-32.
-
(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
-
19
-
-
0036719162
-
Excitatory actions of GABA during development: The nature of the nurture
-
Ben-Ari Y. Excitatory actions of GABA during development: the nature of the nurture. Nat Rev Neurosci 2002;3:728-39.
-
(2002)
Nat Rev Neurosci
, vol.3
, pp. 728-739
-
-
Ben-Ari, Y.1
-
20
-
-
0029162184
-
Ionic mechanisms of neuronal excitation by inhibitory GABAA receptors
-
Staley KJ, Soldo BL, Proctor WR. Ionic mechanisms of neuronal excitation by inhibitory GABAA receptors. Science 1995;269:977-81.
-
(1995)
Science
, vol.269
, pp. 977-981
-
-
Staley, K.J.1
Soldo, B.L.2
Proctor, W.R.3
-
21
-
-
0032483972
-
KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel
-
Wang HS, Pan Z, Shi W, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998;282:1890-3.
-
(1998)
Science
, vol.282
, pp. 1890-1893
-
-
Wang, H.S.1
Pan, Z.2
Shi, W.3
-
22
-
-
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 1998;18:53-5.
-
(1998)
Nat Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
-
23
-
-
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 1998;18:25-9.
-
(1998)
Nat Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
24
-
-
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 1998;279:403-6.
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Biervert, C.1
Schroeder, B.C.2
Kubisch, C.3
-
25
-
-
0032895470
-
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, Ennson LH, Spauschus A, 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
Ennson, L.H.2
Spauschus, A.3
-
26
-
-
0032567437
-
Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel
-
Wakamori M, Yamazaki K, Matsunodaira H, et al. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem 1998;273:34857-67.
-
(1998)
J Biol Chem
, vol.273
, pp. 34857-34867
-
-
Wakamori, M.1
Yamazaki, K.2
Matsunodaira, H.3
-
27
-
-
0032526434
-
Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner
-
Lorenzon NM, Lutz CM, Frankel WN, Beam KG. Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci 1998;18:4482-9.
-
(1998)
J Neurosci
, vol.18
, pp. 4482-4489
-
-
Lorenzon, N.M.1
Lutz, C.M.2
Frankel, W.N.3
Beam, K.G.4
-
28
-
-
0033994299
-
(2+) influx at a mouse central synapse with Ca (2+) channel subunit mutations
-
(2+) influx at a mouse central synapse with Ca (2+) channel subunit mutations. J Neurosci 2000;20:163-70.
-
(2000)
J Neurosci
, vol.20
, pp. 163-170
-
-
Qian, J.1
Noebels, J.L.2
-
29
-
-
0034001913
-
Developmental changes in calcium channel types mediating central synaptic transmission
-
Iwasaki S, Momiyama A, Uchitel OD, Takahashi T. Developmental changes in calcium channel types mediating central synaptic transmission. J Neurosci 2000;20:59-65.
-
(2000)
J Neurosci
, vol.20
, pp. 59-65
-
-
Iwasaki, S.1
Momiyama, A.2
Uchitel, O.D.3
Takahashi, T.4
-
30
-
-
0021231817
-
A single gene error of noradrenergic axon growth synchronizes central neurones
-
Noebels JL. A single gene error of noradrenergic axon growth synchronizes central neurones. Nature 1984;310:409-11.
-
(1984)
Nature
, vol.310
, pp. 409-411
-
-
Noebels, J.L.1
-
31
-
-
0030614535
-
2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
-
2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 1997;88:385-92.
-
(1997)
Cell
, vol.88
, pp. 385-392
-
-
Burgess, D.L.1
Jones, J.M.2
Meisler, M.H.3
Noebels, J.L.4
-
34
-
-
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 2002;70:530-6.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 530-536
-
-
Harkin, L.A.1
Bowser, D.N.2
Dibbens, L.M.3
-
36
-
-
0035033520
-
2-subunit in childhood absence epilepsy and febrile seizures
-
2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
-
(2001)
Nat Genet
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
-
38
-
-
18544376557
-
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
-
Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-41.
-
(2002)
Nat Genet
, vol.30
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
-
39
-
-
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 2002;11:1119-28.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1119-1128
-
-
Morante-Redolat, J.M.1
Gorostidi-Pagola, A.2
Piquer-Sirerol, S.3
-
40
-
-
0036337572
-
How mutations in the nAChRs can cause ADNFLE epilepsy
-
Bertrand D, Picard F, Le Hellard S, et al. How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 2002;43:112-22.
-
(2002)
Epilepsia
, vol.43
, pp. 112-122
-
-
Bertrand, D.1
Picard, F.2
Le Hellard, S.3
|