메뉴 건너뛰기




Volumn 60, Issue 10, 2003, Pages 1687-1690

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE;

EID: 0037799473     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000063324.39980.4A     Document Type: Article
Times cited : (42)

References (12)
  • 1
    • 0029059069 scopus 로고
    • 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 1995;10:56-60.
    • (1995) Nat Genet , vol.10 , pp. 56-60
    • Ottman, R.1    Risch, N.2    Hauser, W.A.3
  • 2
    • 0345003726 scopus 로고    scopus 로고
    • 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 1999;45:182-188.
    • (1999) Ann Neurol , vol.45 , pp. 182-188
    • Poza, J.J.1    Saenz, A.2    Martinez-Gil, A.3
  • 3
    • 18544376557 scopus 로고    scopus 로고
    • Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
    • Kalachikav S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-341.
    • (2002) Nat Genet , vol.30 , pp. 335-341
    • Kalachikav, S.1    Evgrafov, O.2    Ross, B.3
  • 4
    • 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;11:1119-1128.
    • (2002) Hum Mol Genet , vol.11 , pp. 1119-1128
    • Morante-Redolat, J.M.1    Gorostidi-Pagola, A.2    Piquer-Sirerol, S.3
  • 6
    • 0032481137 scopus 로고    scopus 로고
    • A novel gene. LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors
    • Chernova OB, Somerville RP, Cowell JK. A novel gene. LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene 1998;17:2873-2881.
    • (1998) Oncogene , vol.17 , pp. 2873-2881
    • Chernova, O.B.1    Somerville, R.P.2    Cowell, J.K.3
  • 7
    • 0036131141 scopus 로고    scopus 로고
    • Epilepsy research gets new guidance
    • Cowell JK. Epilepsy research gets new guidance. Nat Med 2002;8:219-220.
    • (2002) Nat Med , vol.8 , pp. 219-220
    • Cowell, J.K.1
  • 8
    • 0034643891 scopus 로고    scopus 로고
    • Autosomal dominant partial epilepsy with auditory feutures: Defining the phenotype
    • Winawer MR, Ottman R, Hauser WA, Pedley TA. Autosomal dominant partial epilepsy with auditory feutures: defining the phenotype. Neurology 2000;54:2173-2176.
    • (2000) Neurology , vol.54 , pp. 2173-2176
    • Winawer, M.R.1    Ottman, R.2    Hauser, W.A.3    Pedley, T.A.4
  • 9
    • 0036192726 scopus 로고    scopus 로고
    • Four new families with aotosomal dominant partial epilepsy with auditory features: Clinical description and linkage to chromosome 10q24
    • Winawer MR, Boneschi FM, Barker-Cummings C, et al. Four new families with aotosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia 2002; 43:60-67.
    • (2002) Epilepsia , vol.43 , pp. 60-67
    • Winawer, M.R.1    Boneschi, F.M.2    Barker-Cummings, C.3
  • 10
    • 0036210771 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24
    • Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia 2002;43:228-235.
    • (2002) Epilepsia , vol.43 , pp. 228-235
    • Brodtkorb, E.1    Gu, W.2    Nakken, K.O.3    Fischer, C.4    Steinlein, O.K.5
  • 11
    • 0036712759 scopus 로고    scopus 로고
    • LGI1 in mutated in familial temporal lobe epilepsy characterized by aphasic seizures
    • Gu W, Brodtkorb E, Steinlein OK. LGI1 in mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol 2002;52:364-367.
    • (2002) Ann Neurol , vol.52 , pp. 364-367
    • Gu, W.1    Brodtkorb, E.2    Steinlein, O.K.3
  • 12
    • 0037371070 scopus 로고    scopus 로고
    • Epilepsy with auditury features: A LGI1 gene mutation suggests a loss-of-function mechanism
    • Pizzuti A, Flex E, Di Bonaventura C, et al. Epilepsy with auditury features: a LGI1 gene mutation suggests a loss-of-function mechanism. Ann Neurol 2003;53:396-399.
    • (2003) Ann Neurol , vol.53 , pp. 396-399
    • Pizzuti, A.1    Flex, E.2    Di Bonaventura, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.