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Volumn 85, Issue 1, 2009, Pages 118-122

A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes

Author keywords

Autosomal dominant lateral temporal epilepsy (ADLTE); Epitempin; Genetics; LGI1; Mutation

Indexed keywords

CARBAMAZEPINE; GENE PRODUCT; LEUCINE RICH GLIOMA INACTIVATED 1; PHENOBARBITAL; PHENYTOIN; UNCLASSIFIED DRUG;

EID: 67349253825     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2009.02.007     Document Type: Article
Times cited : (17)

References (16)
  • 2
    • 0037157099 scopus 로고    scopus 로고
    • The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new family of leucine-rich repeat proteins
    • Gu W., Wevers A., Schröder H., Grzeschik k.H., derst C., Brodtkorb E., de Vos R., and Steinlein O.K. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new family of leucine-rich repeat proteins. FEBS Lett. 519 (2002) 71-76
    • (2002) FEBS Lett. , vol.519 , pp. 71-76
    • Gu, W.1    Wevers, A.2    Schröder, H.3    Grzeschik, k.H.4    derst, C.5    Brodtkorb, E.6    de Vos, R.7    Steinlein, O.K.8
  • 3
    • 1542409182 scopus 로고    scopus 로고
    • Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene
    • Hedera P., Abou-Khalil B., Crunk A.E., Taylor K.A., Haines J.L., and Sutcliffe J.S. Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia 45 (2004) 218-222
    • (2004) Epilepsia , vol.45 , pp. 218-222
    • Hedera, P.1    Abou-Khalil, B.2    Crunk, A.E.3    Taylor, K.A.4    Haines, J.L.5    Sutcliffe, J.S.6
  • 10
    • 54749083120 scopus 로고    scopus 로고
    • Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features
    • Rosanoff M.J., and Ottman R. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 71 (2008) 567-571
    • (2008) Neurology , vol.71 , pp. 567-571
    • Rosanoff, M.J.1    Ottman, R.2
  • 11
    • 0037098957 scopus 로고    scopus 로고
    • A common protein interaction domain links two recently identified epilepsy genes
    • Scheel H., Tomiuk S., and Hofmann K. A common protein interaction domain links two recently identified epilepsy genes. Hum. Mol. Genet. 11 (2002) 1757-1762
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1757-1762
    • Scheel, H.1    Tomiuk, S.2    Hofmann, K.3
  • 13
    • 21244505337 scopus 로고    scopus 로고
    • ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
    • Senechal K.R., Thaller C., and Noebels J.L. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum. Mol. Genet. 14 (2005) 1613-1620
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1613-1620
    • Senechal, K.R.1    Thaller, C.2    Noebels, J.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.