메뉴 건너뛰기




Volumn 11, Issue 4, 2011, Pages 107-111

Genetic testing in epilepsy: What should you be doing?

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CADHERIN; GLUCOSE TRANSPORTER 1; PHOSPHOLIPASE C BETA1; PROTOCADHERIN 19; UNCLASSIFIED DRUG;

EID: 84858282800     PISSN: 15357597     EISSN: 15357511     Source Type: Journal    
DOI: 10.5698/1535-7511-11.4.107     Document Type: Review
Times cited : (30)

References (42)
  • 2
    • 81255123103 scopus 로고    scopus 로고
    • Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews. Seattle, WA: University of Washington; ; 2010 Accessed April 20
    • van Bon BWM, Mefford HC, de Vries BBA. 15q13.3 Microdeletion. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews. Seattle, WA: University of Washington; 2010. http://www.ncbi.nlm.nih.gov/books/NBK50780/. Accessed April 20, 2011.
    • (2011) 15q13.3 Microdeletion
    • van Bon, B.W.M.1    Mefford, H.C.2    de Vries, B.B.A.3
  • 4
    • 38949127199 scopus 로고    scopus 로고
    • Navigating the channels and beyond: Unravelling the genetics of the epilepsies
    • Helbig I, Scheffer IE, Mulley JC, Berkovic SF. Navigating the channels and beyond: Unravelling the genetics of the epilepsies. Lancet Neurol 2008;7:231-245.
    • (2008) Lancet Neurol , vol.7 , pp. 231-245
    • Helbig, I.1    Scheffer, I.E.2    Mulley, J.C.3    Berkovic, S.F.4
  • 7
    • 54749083120 scopus 로고    scopus 로고
    • Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features
    • Rosanoff MJ, Ottman R. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2008;71:567-571.
    • (2008) Neurology , vol.71 , pp. 567-571
    • Rosanoff, M.J.1    Ottman, R.2
  • 10
    • 58449109530 scopus 로고    scopus 로고
    • Translational research in epilepsy genetics: Sodium channels in man to interneuronopathy in mouse
    • Review
    • Mullen SA, Scheffer IE. Translational research in epilepsy genetics: Sodium channels in man to interneuronopathy in mouse. Arch Neurol 2009;66:21-26. Review.
    • (2009) Arch Neurol , vol.66 , pp. 21-26
    • Mullen, S.A.1    Scheffer, I.E.2
  • 13
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 17
    • 0015149375 scopus 로고
    • A new familial form of convulsive disorder and mental retardation limited to females
    • Juberg RC, Hellman CD. A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr 1971;79:726-732.
    • (1971) J Pediatr , vol.79 , pp. 726-732
    • Juberg, R.C.1    Hellman, C.D.2
  • 29
    • 34547812084 scopus 로고    scopus 로고
    • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
    • Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81:361-366.
    • (2007) Am J Hum Genet , vol.81 , pp. 361-366
    • Kato, M.1    Saitoh, S.2    Kamei, A.3    Shiraishi, H.4    Ueda, Y.5    Akasaka, M.6    Tohyama, J.7    Akasaka, N.8    Hayasaka, K.9
  • 34
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-709.
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3    Ronen, G.M.4    Behmand, R.A.5    Harik, S.I.6
  • 35
    • 0037651879 scopus 로고    scopus 로고
    • Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
    • Leary LD, Wang D, Nordli DR, Engelstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003;44:701-707.
    • (2003) Epilepsia , vol.44 , pp. 701-707
    • Leary, L.D.1    Wang, D.2    Nordli, D.R.3    Engelstad, K.4    De Vivo, D.C.5
  • 38
    • 77955363549 scopus 로고    scopus 로고
    • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    • Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010;75:432-440.
    • (2010) Neurology , vol.75 , pp. 432-440
    • Mullen, S.A.1    Suls, A.2    De Jonghe, P.3    Berkovic, S.F.4    Scheffer, I.E.5
  • 42
    • 84975742565 scopus 로고    scopus 로고
    • [1000] Genomes Project Consortium, Durbin RM, Abecasis GR, Alt Shuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from populationscale sequencing
    • [1000] Genomes Project Consortium, Durbin RM, Abecasis GR, Alt Shuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from populationscale sequencing. Nature 2010;467:1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.