MUTATIONS IN GRIN2A CAUSE IDIOPATHIC FOCAL EPILEPSY WITH ROLANDIC SPIKES

被引：0

作者：

von Spiczak, S. ^{[1
]}

Lal, D. ^{[2
,3
]}

Reinthaler, E. M. ^{[4
]}

Steiner, I. ^{[5
]}

Nothnagel, M. ^{[2
]}

Laube, B. ^{[6
]}

Schwake, M. ^{[7
]}

Hoffmann, P. ^{[8
]}

Herms, S. ^{[8
]}

Altmueller, J. ^{[2
]}

Toliat, M. R. ^{[2
]}

Thiele, H. ^{[2
]}

Nuernberg, P. ^{[2
]}

Wilhelm, C. ^{[5
]}

Stephani, U. ^{[1
]}

Helbig, I. ^{[1
]}

Lerche, H. ^{[9
]}

Zimprich, F. ^{[4
]}

Neubauer, B. A. ^{[3
]}

Biskup, S. ^{[5
]}

Lemke, J. R. ^{[10
]}

机构：

[1] Univ Med Ctr Schleswig Holstein, Kiel, Germany

[2] Cologne Ctr Genom, Cologne, Germany

[3] Univ Med Ctr Giessen & Marburg, Giessen, Germany

[4] Med Univ Vienna, Vienna, Austria

[5] CeGaT GmbH, Tubingen, Germany

[6] Tech Univ Darmstadt, Darmstadt, Germany

[7] Univ Bielefeld, D-33615 Bielefeld, Germany

[8] Univ Bonn, Bonn, Germany

[9] Univ Tubingen, Tubingen, Germany

[10] Univ Childrens Hosp, Inselspital, Bern, Switzerland

来源：

EPILEPSIA | 2013年 / 54卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：344 / 344

页数：1

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[1] Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Lemke, Johannes R.
Lal, Dennis
Reinthaler, Eva M.
Steiner, Isabelle
Nothnagel, Michael
Alber, Michael
Geider, Kirsten
Laube, Bodo
Schwake, Michael
Finsterwalder, Katrin
Franke, Andre
Schilhabel, Markus
Jaehn, Johanna A.
Muhle, Hiltrud
Boor, Rainer
Van Paesschen, Wim
Caraballo, Roberto
Fejerman, Natalio
Weckhuysen, Sarah
De Jonghe, Peter
Larsen, Jan
Moller, Rikke S.
Hjalgrim, Helle
Addis, Laura
Tang, Shan
Hughes, Elaine
Pal, Deb K.
Veri, Kadi
Vaher, Ulvi
Talvik, Tiina
Dimova, Petia
Lopez, Rosa Guerrero
Serratosa, Jose M.
Linnankivi, Tarja
Lehesjoki, Anna-Elina
Ruf, Susanne
Wolff, Markus
Buerki, Sarah
Wohlrab, Gabriele
Kroell, Judith
Datta, Alexandre N.
Fiedler, Barbara
Kurlemann, Gerhard
Kluger, Gerhard
Hahn, Andreas
Haberlandt, D. Edda
Kutzer, Christina
Sperner, Juergen
Becker, Felicitas
Weber, Yvonne G.
[J]. NATURE GENETICS, 2013, 45 (09) : 1067 - +
[2] Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke
Dennis Lal
Eva M Reinthaler
Isabelle Steiner
Michael Nothnagel
Michael Alber
Kirsten Geider
Bodo Laube
Michael Schwake
Katrin Finsterwalder
Andre Franke
Markus Schilhabel
Johanna A Jähn
Hiltrud Muhle
Rainer Boor
Wim Van Paesschen
Roberto Caraballo
Natalio Fejerman
Sarah Weckhuysen
Peter De Jonghe
Jan Larsen
Rikke S Møller
Helle Hjalgrim
Laura Addis
Shan Tang
Elaine Hughes
Deb K Pal
Kadi Veri
Ulvi Vaher
Tiina Talvik
Petia Dimova
Rosa Guerrero López
José M Serratosa
Tarja Linnankivi
Anna-Elina Lehesjoki
Susanne Ruf
Markus Wolff
Sarah Buerki
Gabriele Wohlrab
Judith Kroell
Alexandre N Datta
Barbara Fiedler
Gerhard Kurlemann
Gerhard Kluger
Andreas Hahn
D Edda Haberlandt
Christina Kutzer
Jürgen Sperner
Felicitas Becker
Yvonne G Weber
[J]. Nature Genetics, 2013, 45 : 1067 - 1072
[3] Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy
Xing-Xing Xu
Xiao-Rong Liu
Cui-Ying Fan
Jin-Xing Lai
Yi-Wu Shi
Wei Yang
Tao Su
Jun-Yu Xu
Jian-Hong Luo
Wei-Ping Liao
[J]. Neuroscience Bulletin, 2018, 34 : 237 - 246
[4] GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Carvill, Gemma L.
Regan, Brigid M.
Yendle, Simone C.
O'Roak, Brian J.
Lozovaya, Natalia
Bruneau, Nadine
Burnashev, Nail
Khan, Adiba
Cook, Joseph
Geraghty, Eileen
Sadleir, Lynette G.
Turner, Samantha J.
Tsai, Meng-Han
Webster, Richard
Ouvrier, Robert
Damiano, John A.
Berkovic, Samuel F.
Shendure, Jay
Hildebrand, Michael S.
Szepetowski, Pierre
Scheffer, Ingrid E.
Mefford, Heather C.
[J]. NATURE GENETICS, 2013, 45 (09) : 1073 - +
[5] Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy
Xing-Xing Xu
Xiao-Rong Liu
Cui-Ying Fan
Jin-Xing Lai
Yi-Wu Shi
Wei Yang
Tao Su
Jun-Yu Xu
Jian-Hong Luo
Wei-Ping Liao
[J]. Neuroscience Bulletin, 2018, 34 (02) : 237 - 246
[6] GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Gemma L Carvill
Brigid M Regan
Simone C Yendle
Brian J O'Roak
Natalia Lozovaya
Nadine Bruneau
Nail Burnashev
Adiba Khan
Joseph Cook
Eileen Geraghty
Lynette G Sadleir
Samantha J Turner
Meng-Han Tsai
Richard Webster
Robert Ouvrier
John A Damiano
Samuel F Berkovic
Jay Shendure
Michael S Hildebrand
Pierre Szepetowski
Ingrid E Scheffer
Heather C Mefford
[J]. Nature Genetics, 2013, 45 : 1073 - 1076
[7] Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy
Xu, Xing-Xing
Liu, Xiao-Rong
Fan, Cui-Ying
Lai, Jin-Xing
Shi, Yi-Wu
Yang, Wei
Su, Tao
Xu, Jun-Yu
Luo, Jian-Hong
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[J]. NEUROSCIENCE BULLETIN, 2018, 34 (02) : 237 - 246
[8] GRIN2A, a green semaphore on the lumping route to idiopathic focal epilepsy in childhood
Vercueil, L.
[J]. REVUE NEUROLOGIQUE, 2013, 169 (12) : 921 - 922
[9] GRIN2A mutations in epilepsy-aphasia spectrum disorders
Yang, Xiaoling
Qian, Ping
Xu, Xiaojing
Liu, Xiaoyan
Wu, Xiru
Zhang, Yuehua
Yang, Zhixian
[J]. BRAIN & DEVELOPMENT, 2018, 40 (03): : 205 - 210
[10] EPILEPSY-APHASIA SPECTRUM DISORDERS ARE CAUSED BY MUTATIONS IN GRIN2A
Carvill, G. L.
Regan, B. M.
Yendle, S. C.
O'Roak, B. J.
Khan, A.
Cook, J.
Sadleir, L. G.
Turner, S. J.
Tsai, M-H
Webster, R.
Ouvrier, R.
Damiano, J.
Berkovic, S. F.
Shendure, J.
Hildebrand, M.
Scheffer, I. E.
Mefford, H. C.
[J]. EPILEPSIA, 2013, 54 : 294 - 294

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