메뉴 건너뛰기




Volumn 49, Issue 6, 2013, Pages 482-485

Two patients with a grin2a mutation and childhood-onset epilepsy

Author keywords

epilepsy; GRIN2A; NMDA; receptors

Indexed keywords

BRIVARACETAM; CLOBAZAM; CLONAZEPAM; ETHOSUXIMIDE; ETIRACETAM; FELBAMATE; GLUTAMATE RECEPTOR; GLUTAMATE RECEPTOR IONOTROPIC N METHYL D ASPARTATE 2A; HARKOSERIDE; LAMOTRIGINE; N METHYL DEXTRO ASPARTIC ACID; OXCARBAZEPINE; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; ZONISAMIDE;

EID: 84888218571     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.08.023     Document Type: Article
Times cited : (28)

References (12)
  • 1
    • 78049329316 scopus 로고    scopus 로고
    • Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    • S. Endele, G. Rosenberger, and K. Geider Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes Nat Genet 42 2010 1021 1026
    • (2010) Nat Genet , vol.42 , pp. 1021-1026
    • Endele, S.1    Rosenberger, G.2    Geider, K.3
  • 2
    • 0030028957 scopus 로고    scopus 로고
    • Gene structure and chromosomal localization of the mouse NMDA receptor channel subunits
    • M. Nagasawa, K. Sakimura, and K.J. Mori Gene structure and chromosomal localization of the mouse NMDA receptor channel subunits Brain Res Mol Brain Res 36 1996 1 11
    • (1996) Brain Res Mol Brain Res , vol.36 , pp. 1-11
    • Nagasawa, M.1    Sakimura, K.2    Mori, K.J.3
  • 3
    • 82955247649 scopus 로고    scopus 로고
    • The NMDA receptor complex as a therapeutic target in epilepsy: A review
    • M. Ghasemi, and S.C. Schachter The NMDA receptor complex as a therapeutic target in epilepsy: a review Epilepsy Behav 22 2011 617 640
    • (2011) Epilepsy Behav , vol.22 , pp. 617-640
    • Ghasemi, M.1    Schachter, S.C.2
  • 4
    • 84881128534 scopus 로고    scopus 로고
    • Efficacy and safety of adjunctive perampanel for the treatment of refractory partial seizures: A pooled analysis of three phase III studies
    • B.J. Steinhoff, E. Ben-Menachem, and P. Ryvlin Efficacy and safety of adjunctive perampanel for the treatment of refractory partial seizures: a pooled analysis of three phase III studies Epilepsia 54 2013 1481 1489
    • (2013) Epilepsia , vol.54 , pp. 1481-1489
    • Steinhoff, B.J.1    Ben-Menachem, E.2    Ryvlin, P.3
  • 5
    • 77956298564 scopus 로고    scopus 로고
    • Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region
    • C. Reutlinger, I. Helbig, and B. Gawelczyk Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region Epilepsia 51 2010 1870 1873
    • (2010) Epilepsia , vol.51 , pp. 1870-1873
    • Reutlinger, C.1    Helbig, I.2    Gawelczyk, B.3
  • 6
    • 84866123041 scopus 로고    scopus 로고
    • Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism
    • G. Lesca, G. Rudolf, and A. Labalme Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism Epilepsia 53 2012 1526 1538
    • (2012) Epilepsia , vol.53 , pp. 1526-1538
    • Lesca, G.1    Rudolf, G.2    Labalme, A.3
  • 7
    • 80053564783 scopus 로고    scopus 로고
    • Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach
    • S. von Spiczak, K. Finsterwalder, and H. Muhle Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach Epilepsia 52 2011 e143 e147
    • (2011) Epilepsia , vol.52
    • Von Spiczak, S.1    Finsterwalder, K.2    Muhle, H.3
  • 8
    • 81555218550 scopus 로고    scopus 로고
    • Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
    • J. Tarabeux, O. Kebir, and J. Gauthier Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia Transl Psychiatry 1 2011 e55
    • (2011) Transl Psychiatry , vol.1 , pp. 55
    • Tarabeux, J.1    Kebir, O.2    Gauthier, J.3
  • 9
    • 0028168936 scopus 로고
    • Two loci for tuberous sclerosis: One on 9q34 and one on 16p13
    • S. Povey, M.W. Burley, and J. Attwood Two loci for tuberous sclerosis: one on 9q34 and one on 16p13 Ann Hum Genet 58 1994 107 127
    • (1994) Ann Hum Genet , vol.58 , pp. 107-127
    • Povey, S.1    Burley, M.W.2    Attwood, J.3
  • 10
    • 84873137129 scopus 로고    scopus 로고
    • Assessment of NMDA receptor genes (GRIN2A, GRIN2B and GRIN2C) as candidate genes in the development of degenerative lumbar scoliosis
    • K.T. Kim, J. Kim, Y.J. Han, J.H. Kim, J.S. Lee, and J.H. Chung Assessment of NMDA receptor genes (GRIN2A, GRIN2B and GRIN2C) as candidate genes in the development of degenerative lumbar scoliosis Exp Ther Med 5 2013 977 981
    • (2013) Exp Ther Med , vol.5 , pp. 977-981
    • Kim, K.T.1    Kim, J.2    Han, Y.J.3    Kim, J.H.4    Lee, J.S.5    Chung, J.H.6
  • 11
    • 3142523275 scopus 로고    scopus 로고
    • Glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) gene as a positional candidate for attention-deficit/hyperactivity disorder in the 16p13 region
    • J. Adams, J. Crosbie, and K. Wigg Glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) gene as a positional candidate for attention-deficit/hyperactivity disorder in the 16p13 region Mol Psychiatry 9 2004 494 499
    • (2004) Mol Psychiatry , vol.9 , pp. 494-499
    • Adams, J.1    Crosbie, J.2    Wigg, K.3
  • 12
    • 55549135314 scopus 로고    scopus 로고
    • Anti-NMDA-receptor encephalitis: Case series and analysis of the effects of antibodies
    • J. Dalmau, A.J. Gleichman, and E.G. Hughes Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies Lancet Neurol 7 2008 1091 1098
    • (2008) Lancet Neurol , vol.7 , pp. 1091-1098
    • Dalmau, J.1    Gleichman, A.J.2    Hughes, E.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.