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Volumn 22, Issue 3, 2011, Pages 581-583

Predisposition to epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?

Author keywords

BDNF gene; Epilepsy; FMR1 gene; Fragile X syndrome; Polymorphism

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 80054978036     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2011.08.003     Document Type: Article
Times cited : (12)

References (12)
  • 1
    • 32244436484 scopus 로고    scopus 로고
    • The fragile X premutation: new insights and clinical consequences
    • Van Esch H. The fragile X premutation: new insights and clinical consequences. Eur J Med Genet 2006, 49:1-8.
    • (2006) Eur J Med Genet , vol.49 , pp. 1-8
    • Van Esch, H.1
  • 2
    • 0036827976 scopus 로고    scopus 로고
    • Epilepsy in fragile X syndrome
    • Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol 2002, 44:724-728.
    • (2002) Dev Med Child Neurol , vol.44 , pp. 724-728
    • Berry-Kravis, E.1
  • 3
    • 0032972755 scopus 로고    scopus 로고
    • Partial seizures with focal epileptogenic electroencephalographic patterns in three related female patients with fragile X syndrome
    • Singh R., Sutherland G., Manson J. Partial seizures with focal epileptogenic electroencephalographic patterns in three related female patients with fragile X syndrome. J Child Neurol 1999, 14:108-112.
    • (1999) J Child Neurol , vol.14 , pp. 108-112
    • Singh, R.1    Sutherland, G.2    Manson, J.3
  • 4
    • 0035099308 scopus 로고    scopus 로고
    • Epilepsy and EEG findings in 18 males with fragile X syndrome
    • Sabaratnam M., Vroegop P., Gangadharan S. Epilepsy and EEG findings in 18 males with fragile X syndrome. Seizure 2001, 10:60-63.
    • (2001) Seizure , vol.10 , pp. 60-63
    • Sabaratnam, M.1    Vroegop, P.2    Gangadharan, S.3
  • 5
    • 67349204855 scopus 로고    scopus 로고
    • The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome
    • Louhivuori V., Arvio M., Soronen P., et al. The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome. Epilepsy Res 2009, 85:114-117.
    • (2009) Epilepsy Res , vol.85 , pp. 114-117
    • Louhivuori, V.1    Arvio, M.2    Soronen, P.3
  • 6
    • 33947235663 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirms association to substance-related disorders, eating disorders, and schizophrenia
    • Gratacos M., Gonzalez J., Mercader J., et al. Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirms association to substance-related disorders, eating disorders, and schizophrenia. Biol Psychiatry 2007, 61:911-922.
    • (2007) Biol Psychiatry , vol.61 , pp. 911-922
    • Gratacos, M.1    Gonzalez, J.2    Mercader, J.3
  • 7
    • 48849109122 scopus 로고    scopus 로고
    • Impact of genetic variant BDNF (Val66Met) on brain structure and function
    • Chen Z., Bath K., McEwen B., et al. Impact of genetic variant BDNF (Val66Met) on brain structure and function. Novartis Found Symp 2008, 289:180-195.
    • (2008) Novartis Found Symp , vol.289 , pp. 180-195
    • Chen, Z.1    Bath, K.2    McEwen, B.3
  • 8
    • 45949096771 scopus 로고    scopus 로고
    • The p.Val66Met polymorphism in the BDNF gene protects against early seizures in RETT syndrome
    • Nectoux J., Bahi-Buisson N., Guellec I., et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in RETT syndrome. Neurology 2008, 70:2145-2151.
    • (2008) Neurology , vol.70 , pp. 2145-2151
    • Nectoux, J.1    Bahi-Buisson, N.2    Guellec, I.3
  • 9
    • 65249169270 scopus 로고    scopus 로고
    • The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
    • Ben Zeev B., Bebbington A., Ho G., et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009, 72:1242-1247.
    • (2009) Neurology , vol.72 , pp. 1242-1247
    • Ben Zeev, B.1    Bebbington, A.2    Ho, G.3
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Maniatis T., Firtsch E.F., Sambrook J. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Maniatis, T.1    Firtsch, E.F.2    Sambrook, J.3
  • 11
    • 0026345716 scopus 로고
    • Variation of the CGG repeat X site results in genetic instability: resolution of Sherman paradox
    • Fu Y.H., Kuhl D.P., Pizzuti A., et al. Variation of the CGG repeat X site results in genetic instability: resolution of Sherman paradox. Cell 1991, 67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3
  • 12
    • 78049436586 scopus 로고    scopus 로고
    • Autoinmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
    • Chonchaiya W., Tassone F., Ashwood P., et al. Autoinmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome. Hum Genet 2010, 128:539-548.
    • (2010) Hum Genet , vol.128 , pp. 539-548
    • Chonchaiya, W.1    Tassone, F.2    Ashwood, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.