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
  • [21] Identification of a novel mutation in GRIN2A gene with global developmental delay and refractory epilepsy
    Sarigecili, Esra
    Direk, Meltem Cobanogullari
    Komur, Mustafa
    Bozdogan, Sevcan Tug
    Okuyaz, Cetin
    [J]. ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2020, 23 (05) : 696 - +
  • [22] Epilepsy in patients with GRIN2A, alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs
    von Stuelpnagel, C.
    Ensslen, M.
    Moller, R. S.
    Pal, D. K.
    Masnada, S.
    Veggiotti, P.
    Piazza, E.
    Dreesmann, M.
    Hartlieb, T.
    Herberhold, T.
    Hughes, E.
    Koch, M.
    Kutzer, C.
    Hoertnagel, K.
    Nitanda, J.
    Pohl, M.
    Rostasy, K.
    Haack, T. B.
    Stoehr, K.
    Kluger, G.
    Borggraefe, I.
    [J]. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2017, 21 (03) : 530 - 541
  • [23] L-serine treatment in a patient with refractory epilepsy due to a GRIN2A missense mutation
    Shin, Hui Jin
    Ko, Ara
    Kim, Se Hee
    Kang, Hoon-Chul
    Lee, Joon Soo
    [J]. ACTA NEUROLOGICA BELGICA, 2024,
  • [24] Seizure exacerbation associated with oxcarbazepine in idiopathic focal epilepsy of childhood
    Chapman, K
    Holland, K
    Erenberg, G
    [J]. NEUROLOGY, 2003, 61 (07) : 1012 - 1013
  • [25] Oxcarbazepine and atypical evolution of benign idiopathic focal epilepsy of childhood
    Grosso, S.
    Balestri, M.
    Di Bartolo, R. M.
    Corbini, L.
    Vatti, G.
    Curatolo, P.
    Balestri, P.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2006, 13 (10) : 1142 - 1145
  • [26] MUTATIONS IN GRIN2B IN WEST SYNDROME AND INTELLECTUAL DISABILITY WITH CHILDHOOD-ONSET FOCAL EPILEPSY
    Lemke, J. R.
    Hendrickx, R.
    Geider, K.
    Bodo, L.
    Schwake, M.
    Harvey, R. J.
    James, V. M.
    Pepler, A.
    Steiner, I
    Hoertnagel, K.
    Neidhardt, J.
    Ruf, S.
    Wolff, M.
    Bartholdi, D.
    Caraballo, R.
    Platzer, K.
    Suls, A.
    De Jonghe, P.
    Biskup, S.
    Weckhuysen, S.
    [J]. EPILEPSIA, 2014, 55 : 11 - 11
  • [27] miR-30b-5p targeting GRIN2A inhibits hippocampal damage in epilepsy
    Zheng, Hu
    Wu, Liuyang
    Yuan, Huisheng
    [J]. OPEN MEDICINE, 2023, 18 (01):
  • [28] SCN1A as a Candidate Gene Modifier Influencing the Severity of Epilepsy in Autosomal Dominant GRIN2A Mutation
    Marafie, D. N.
    Emrick, L. T.
    Coorg, R. K.
    Proud, M. B.
    Zeller, R. S.
    Clark, G. D.
    [J]. ANNALS OF NEUROLOGY, 2015, 78 : S155 - S156
  • [29] Two novel mutations in GRIN2A and LGI1 in multigenerational Bulgarian families with different forms of epilepsy
    Peycheva, V.
    Kamenarova, K.
    Tzveova, R.
    Ivanova, N.
    Zhelyazkova, S.
    Radionova, M.
    Pacheva, I.
    Ivanov, I.
    Litvinenko, I.
    Mitev, V.
    Tournev, I.
    Jordanova, A.
    Kaneva, R.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 388 - 389
  • [30] Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy
    Chen, Wenjuan
    Tankovic, Anel
    Burger, Pieter B.
    Kusumoto, Hirofumi
    Traynelis, Stephen F.
    Yuan, Hongjie
    [J]. MOLECULAR PHARMACOLOGY, 2017, 91 (04) : 317 - U88
12345