Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy

被引：29

作者：

DeVries, Seth P.

Patel, Anup D.

机构：

[1] Nationwide Childrens Hosp, Div Pediat Neurol, Columbus, OH USA

[2] Ohio State Univ, Coll Med, Columbus, OH 43210 USA

来源：

PEDIATRIC NEUROLOGY | 2013年 / 49卷 / 06期

关键词：

GRIN2A; epilepsy; NMDA; receptors; CANDIDATE GENES; RECEPTOR; 16P13; DISORDERS; SUBUNITS; AUTISM; REGION;

D O I：

10.1016/j.pediatrneurol.2013.08.023

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

BACKGROUND: N-methyl-D-aspartate is a key neurotransmitter within the central nervous system and its dysfunction can play an important role in epilepsy. Mutations of genes involving the N-methyl-D-aspartate receptor have been implicated in a wide variety of neuropsychiatric disorders including epilepsy, specifically, within the glutamate receptor ionotropic N-methyl-D-aspartate 2A (GRIN2A). PATIENTS: We report two patients with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation who presented with epilepsy. CONCLUSIONS: Individuals with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation exhibit a broad clinical spectrum.

引用

页码：482 / 485

页数：4

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[1] INTELLECTUAL FUNCTIONS OF PATIENTS WITH CHILDHOOD-ONSET EPILEPSY
RODIN, EA
SCHMALTZ, S
TWITTY, G
[J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1986, 28 (01): : 25 - 33
[2] GRIN2A, a green semaphore on the lumping route to idiopathic focal epilepsy in childhood
Vercueil, L.
[J]. REVUE NEUROLOGIQUE, 2013, 169 (12) : 921 - 922
[3] MUTATIONS IN GRIN2B IN WEST SYNDROME AND INTELLECTUAL DISABILITY WITH CHILDHOOD-ONSET FOCAL EPILEPSY
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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
[4] Investigation of GRIN2A in common epilepsy phenotypes
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Steinbruecker, Sandra
Schubert, Julian
Sander, Thomas
Becker, Felicitas
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Becker, Albert J.
Schoch, Susanne
Hansen, Joerg
Dorn, Thomas
Hohl, Christin
Luescher, Nicole
von Spiczak, Sarah
Lemke, Johannes R.
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[5] A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
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Zhang, Yujia
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Chen, Wenjuan
XiangWei, Wenshu
Shaulsky, Gil H.
Hu, Chun
Traynelis, Stephen F.
Yuan, Hongjie
Jiang, Yuwu
[J]. PLOS ONE, 2017, 12 (02):
[6] Infantile hemiconvulsion-hemiplegia epilepsy syndrome associated with GRIN2A gene mutation
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Gazikalovic, Slobodan
Vucetic-Tadic, Biljana
[J]. SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO, 2021, 149 (7-8) : 485 - 488
[7] Cognition in childhood-onset epilepsy
Shinnar, Shlomo
[J]. JORNAL DE PEDIATRIA, 2010, 86 (05) : 349 - 350
[8] Mortality in childhood-onset epilepsy
Berg, AT
Shinnar, S
Testa, FM
Levy, SR
Smith, SN
Beckerman, B
[J]. ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, 2004, 158 (12): : 1147 - 1152
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[10] GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
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Yuan, Hongjie
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Markello, Thomas
Golas, Gretchen
Simeonov, Dimitre R.
Holloman, Conisha
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Karamchandani, Manish M.
Schreiber, John M.
Mullikin, James C.
Tifft, Cynthia J.
Toro, Camilo
Boerkoel, Cornelius F.
Traynelis, Stephen F.
Gahl, William A.
[J]. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2014, 1 (03): : 190 - 198

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