메뉴 건너뛰기




Volumn 108, Issue 5, 2014, Pages 972-977

LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)

Author keywords

Genetic heterogeneity; LGI1; LTE; Microdeletions; MLPA; PEAF

Indexed keywords

CARBAMAZEPINE; ETIRACETAM; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; TOPIRAMATE; VALPROIC ACID; LGI1 PROTEIN, HUMAN; PROTEIN;

EID: 84900519771     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2014.03.005     Document Type: Article
Times cited : (4)

References (16)
  • 7
    • 33749038646 scopus 로고    scopus 로고
    • Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission
    • Fukata Y., Adesnik H., Iwanaga T., Bredt D.S., Nicoll R.A., Fukata M. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 2006, 313(5794):1792-1795.
    • (2006) Science , vol.313 , Issue.5794 , pp. 1792-1795
    • Fukata, Y.1    Adesnik, H.2    Iwanaga, T.3    Bredt, D.S.4    Nicoll, R.A.5    Fukata, M.6
  • 8
    • 84870244622 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics?
    • Hömig-Hölzel C., Savola S. Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics?. Diagn. Mol. Pathol. 2012, 21(4):189-206.
    • (2012) Diagn. Mol. Pathol. , vol.21 , Issue.4 , pp. 189-206
    • Hömig-Hölzel, C.1    Savola, S.2
  • 12
    • 54749083120 scopus 로고    scopus 로고
    • Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features
    • Rosanoff M.J., Ottman R. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2008, 71(8):567-571.
    • (2008) Neurology , vol.71 , Issue.8 , pp. 567-571
    • Rosanoff, M.J.1    Ottman, R.2
  • 13
    • 0037098957 scopus 로고    scopus 로고
    • A common protein interaction domain links two recently identified epilepsy genes
    • Scheel H., Tomiuk S., Hofmann K. A common protein interaction domain links two recently identified epilepsy genes. Hum. Mol. Genet. 2002, 11(15):1757-1762.
    • (2002) Hum. Mol. Genet. , vol.11 , Issue.15 , pp. 1757-1762
    • Scheel, H.1    Tomiuk, S.2    Hofmann, K.3
  • 15
    • 84858963631 scopus 로고    scopus 로고
    • Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases?
    • Stuppia L., Antonucci I., Palka G., Gatta V. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases?. Int. J. Mol. Sci. 2012, 13(3):3245-3276.
    • (2012) Int. J. Mol. Sci. , vol.13 , Issue.3 , pp. 3245-3276
    • Stuppia, L.1    Antonucci, I.2    Palka, G.3    Gatta, V.4
  • 16
    • 0034643891 scopus 로고    scopus 로고
    • Autosomal dominant partial epilepsy with auditory features: defining the phenotype
    • Winawer M.R., Ottman R., Hauser W.A., Pedley T.A. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology 2000, 54(11):2173-2176.
    • (2000) Neurology , vol.54 , Issue.11 , pp. 2173-2176
    • Winawer, M.R.1    Ottman, R.2    Hauser, W.A.3    Pedley, T.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.