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Volumn 44, Issue SUPPL. 2, 2003, Pages 16-21

Exploring new gene discoveries in idiopathic generalized epilepsy

Author keywords

Channelopathy; GABA receptor mutations; Genetic heterogeneity; Idiopathic generalized epilepsies; Ion channel mutations

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ION CHANNEL; POTASSIUM CHANNEL; SODIUM CHANNEL;

EID: 0038185246     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.44.s.2.4.x     Document Type: Conference Paper
Times cited : (44)

References (40)
  • 1
    • 0026442417 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 10
    • 0035074294 scopus 로고    scopus 로고
    • 1-subunit mutations in generalized epilepsy with febrile seizures plus
    • 1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-65.
    • (2001) Am J Hum Genet , vol.68 , pp. 859-865
    • Wallace, R.H.1    Scheffer, I.E.2    Barnett, S.3
  • 12
    • 14344277590 scopus 로고    scopus 로고
    • + 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • (+) 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
  • 16
    • 0037046207 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 19
    • 0036719162 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 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, 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • (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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.