메뉴 건너뛰기




Volumn 64, Issue 3, 2007, Pages 324-328

New ideas in epilepsy genetics: Novel epilepsy genes, copy number alterations, and gene regulation

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; ION CHANNEL; LITHIUM; TRANSCRIPTION FACTOR SOX3;

EID: 33947229268     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.3.324     Document Type: Review
Times cited : (32)

References (17)
  • 1
    • 18544376557 scopus 로고    scopus 로고
    • 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. 2002;30:335-341.
    • (2002) Nat Genet , vol.30 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3
  • 2
    • 33344456574 scopus 로고    scopus 로고
    • The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1
    • Schulte U, Thumfart JO, Klocker N, et al. The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. Neuron. 2006;49:697-706.
    • (2006) Neuron , vol.49 , pp. 697-706
    • Schulte, U.1    Thumfart, J.O.2    Klocker, N.3
  • 3
    • 21244505337 scopus 로고    scopus 로고
    • 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. 2005;14:1613-1620.
    • (2005) Hum Mol Genet , vol.14 , pp. 1613-1620
    • Senechal, K.R.1    Thaller, C.2    Noebels, J.L.3
  • 4
    • 33749038646 scopus 로고    scopus 로고
    • Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission
    • Fukuta Y, Adesnik H, Iwanaga T, et al. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science. 2006;313:1792-1795.
    • (2006) Science , vol.313 , pp. 1792-1795
    • Fukuta, Y.1    Adesnik, H.2    Iwanaga, T.3
  • 7
    • 0036828830 scopus 로고    scopus 로고
    • A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
    • Nakayama J, Fu YH, Clark AM, et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002;52:654-657.
    • (2002) Ann Neurol , vol.52 , pp. 654-657
    • Nakayama, J.1    Fu, Y.H.2    Clark, A.M.3
  • 8
    • 3543026306 scopus 로고    scopus 로고
    • 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. 2004;36:842-849.
    • (2004) Nat Genet , vol.36 , pp. 842-849
    • Suzuki, T.1    Delgado-Escueta, A.V.2    Aguan, K.3
  • 9
    • 25844513712 scopus 로고    scopus 로고
    • A new EF-hand containing gene EFHC2 on Xp11.4: Tentative evidence for association with juvenile myoclonic epilepsy
    • Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK. A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. Epilepsy Res. 2005;66:91-98.
    • (2005) Epilepsy Res , vol.66 , pp. 91-98
    • Gu, W.1    Sander, T.2    Heils, A.3    Lenzen, K.P.4    Steinlein, O.K.5
  • 10
    • 19944384885 scopus 로고    scopus 로고
    • Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy
    • Greenberg DA, Cayanis E, Strug L, et al. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.AmJ Hum Genet. 2005;76:139-146.
    • (2005) AmJ Hum Genet , vol.76 , pp. 139-146
    • Greenberg, D.A.1    Cayanis, E.2    Strug, L.3
  • 11
    • 27244432237 scopus 로고    scopus 로고
    • Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy
    • Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T. Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia. 2005;46:1637-1641.
    • (2005) Epilepsia , vol.46 , pp. 1637-1641
    • Lenzen, K.P.1    Heils, A.2    Lorenz, S.3    Hempelmann, A.4    Sander, T.5
  • 12
    • 0043167789 scopus 로고    scopus 로고
    • BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy
    • Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet. 2003;73:261-270.
    • (2003) Am J Hum Genet , vol.73 , pp. 261-270
    • Pal, D.K.1    Evgrafov, O.V.2    Tabares, P.3    Zhang, F.4    Durner, M.5    Greenberg, D.A.6
  • 13
    • 8844220357 scopus 로고    scopus 로고
    • Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
    • Nakayama J, Yamamoto N, Hamano K, et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology. 2004;63:1803-1807.
    • (2004) Neurology , vol.63 , pp. 1803-1807
    • Nakayama, J.1    Yamamoto, N.2    Hamano, K.3
  • 14
    • 33645415686 scopus 로고    scopus 로고
    • Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    • Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006;354:1370-1377.
    • (2006) N Engl J Med , vol.354 , pp. 1370-1377
    • Strauss, K.A.1    Puffenberger, E.G.2    Huentelman, M.J.3
  • 15
    • 27644494079 scopus 로고    scopus 로고
    • Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies
    • Sherr EH, Owen R, Albertson DG, et al. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005;65:1496-1498.
    • (2005) Neurology , vol.65 , pp. 1496-1498
    • Sherr, E.H.1    Owen, R.2    Albertson, D.G.3
  • 16
    • 33645073400 scopus 로고    scopus 로고
    • A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers
    • Jeong Y, El-Jaick K, Roessler E, Muenke M, Epstein DJ. A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development. 2006;133:761-772.
    • (2006) Development , vol.133 , pp. 761-772
    • Jeong, Y.1    El-Jaick, K.2    Roessler, E.3    Muenke, M.4    Epstein, D.J.5
  • 17
    • 26444453686 scopus 로고    scopus 로고
    • An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
    • Bowl MR, Nesbit MA, Harding B, et al. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest. 2005;115:2822-2831.
    • (2005) J Clin Invest , vol.115 , pp. 2822-2831
    • Bowl, M.R.1    Nesbit, M.A.2    Harding, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.