GRIN2A, a green semaphore on the lumping route to idiopathic focal epilepsy in childhood

被引：1
|
作者：
Vercueil, L. [1 ,2 ]
机构：
[1] CHU Grenoble, EFSN, Pole Psychiat & Neurol, F-38043 Grenoble 9, France
[2] Univ Grenoble 1, INSERM, U836, Grenoble Inst Neurosci, F-38042 Grenoble 9, France
来源：
REVUE NEUROLOGIQUE | 2013年 / 169卷 / 12期
关键词：
MUTATIONS; APHASIA;
D O I：
10.1016/j.neurol.2013.10.003
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：921 / 922
页数：2
相关论文
共 48 条
  • [31] An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking
    Vieira, Marta Mota
    Nguyen, Thien A.
    Wu, Kunwei
    Badger, John D.
    Collins, Brett M.
    Anggono, Victor
    Lu, Wei
    Roche, Katherine W.
    [J]. CELL REPORTS, 2020, 32 (09):
  • [32] EXOME SEQUENCING OF FAMILIES WITH AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY (ADLTE) REVEALS A GRIN2A MUTATION IN ONE FAMILY
    Nobile, C.
    Fanciulli, M.
    Dri, Vianello V.
    Dazzo, E.
    Boniver, C.
    [J]. EPILEPSIA, 2016, 57 : 118 - 119
  • [33] GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy
    Lemke, Johannes R.
    Hendrickx, Rik
    Geider, Kirsten
    Laube, Bodo
    Schwake, Michael
    Harvey, Robert J.
    James, Victoria M.
    Pepler, Alex
    Steiner, Isabelle
    Hoertnagel, Konstanze
    Neidhardt, John
    Ruf, Susanne
    Wolff, Markus
    Bartholdi, Deborah
    Caraballo, Roberto
    Platzer, Konrad
    Suls, Arvid
    De Jonghe, Peter
    Biskup, Saskia
    Weckhuysen, Sarah
    [J]. ANNALS OF NEUROLOGY, 2014, 75 (01) : 147 - 154
  • [34] A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
    Dimassi, Sarra
    Labalme, Audrey
    Lesca, Gaetan
    Rudolf, Gabrielle
    Bruneau, Nadine
    Hirsch, Edouard
    Arzimanoglou, Alexis
    Motte, Jacques
    Martin, Anne de Saint
    Boutry-Kryza, Nadia
    Cloarec, Robin
    Benitto, Afaf
    Ameil, Agnes
    Edery, Patrick
    Ryvlin, Philippe
    De Bellescize, Julitta
    Szepetowski, Pierre
    Sanlaville, Damien
    [J]. EPILEPSIA, 2014, 55 (02) : 370 - 378
  • [35] Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue
    L. Addis
    J. K. Virdee
    L. R. Vidler
    D. A. Collier
    D. K. Pal
    D. Ursu
    [J]. Scientific Reports, 7
  • [36] Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue
    Addis, L.
    Virdee, J. K.
    Vidler, L. R.
    Collier, D. A.
    Pal, D. K.
    Ursu, D.
    [J]. SCIENTIFIC REPORTS, 2017, 7
  • [37] The not so benign idiopathic focal epilepsies of childhood - A second look on the benign childhood epilepsy with centrotemporal spikes (BECTS)
    De Paola, L
    [J]. ARQUIVOS DE NEURO-PSIQUIATRIA, 2003, 61 : 59 - 64
  • [38] Generation of an induced pluripotent stem cell line SYSUi-003-A from a child with epilepsy carrying GRIN2A mutation
    Sun, Chuanbo
    Yang, Mingzhu
    Qin, Fengying
    Guo, Ruirui
    Liang, Shiqi
    Hu, Hao
    [J]. STEM CELL RESEARCH, 2020, 43
  • [39] Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood
    Pavlidis, Elena
    Rubboli, Guido
    Nikanorova, Marina
    Kolmel, Margarethe Sophie
    Gardella, Elena
    [J]. FUNCTIONAL NEUROLOGY, 2015, 30 (02) : 139 - 141
  • [40] Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a
    Salmi, Manal
    Bolbos, Radu
    Bauer, Sylvian
    Minlebaev, Marat
    Burnashev, Nail
    Szepetowski, Pierre
    [J]. EPILEPSIA, 2018, 59 (10) : 1919 - 1930
12345