Heneu O Tan, Christopher A Reid, Frank N Single, Philip J Davies, Cindy Chiu, Susan Murphy, Alison L Clarke, Leanne Dibbens, Heinz Krestel, John C Mulley, Mathew V Jones, Peter H Seeburg, Bert Sakmann, Samuel F Berkovic, Rolf Sprengel, Steven Petrou. Proc Natl Acad Sci U S A 2007
Times Cited: 144
Times Cited: 144
Times Cited
Times Co-cited
Similarity
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
R H Wallace, C Marini, S Petrou, L A Harkin, D N Bowser, R G Panchal, D A Williams, G R Sutherland, J C Mulley, I E Scheffer,[...]. Nat Genet 2001
R H Wallace, C Marini, S Petrou, L A Harkin, D N Bowser, R G Panchal, D A Williams, G R Sutherland, J C Mulley, I E Scheffer,[...]. Nat Genet 2001
52
Childhood absence epilepsy: genes, channels, neurons and networks.
Vincenzo Crunelli, Nathalie Leresche. Nat Rev Neurosci 2002
Vincenzo Crunelli, Nathalie Leresche. Nat Rev Neurosci 2002
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Cortical focus drives widespread corticothalamic networks during spontaneous absence seizures in rats.
Hanneke K M Meeren, Jan Pieter M Pijn, Egidius L J M Van Luijtelaar, Anton M L Coenen, Fernando H Lopes da Silva. J Neurosci 2002
Hanneke K M Meeren, Jan Pieter M Pijn, Egidius L J M Van Luijtelaar, Anton M L Coenen, Fernando H Lopes da Silva. J Neurosci 2002
23
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
S Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, J F Prud'homme, M Baulac, A Brice, R Bruzzone, E LeGuern. Nat Genet 2001
S Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, J F Prud'homme, M Baulac, A Brice, R Bruzzone, E LeGuern. Nat Genet 2001
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Multiple molecular mechanisms for a single GABAA mutation in epilepsy.
Christopher A Reid, Taehwan Kim, A Marie Phillips, Jun Low, Samuel F Berkovic, Bernhard Luscher, Steven Petrou. Neurology 2013
Christopher A Reid, Taehwan Kim, A Marie Phillips, Jun Low, Samuel F Berkovic, Bernhard Luscher, Steven Petrou. Neurology 2013
42
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
Snezana Maljevic, Klaus Krampfl, Joana Cobilanschi, Nikola Tilgen, Susanne Beyer, Yvonne G Weber, Friedrich Schlesinger, Daniel Ursu, Werner Melzer, Patrick Cossette,[...]. Ann Neurol 2006
Snezana Maljevic, Klaus Krampfl, Joana Cobilanschi, Nikola Tilgen, Susanne Beyer, Yvonne G Weber, Friedrich Schlesinger, Daniel Ursu, Werner Melzer, Patrick Cossette,[...]. Ann Neurol 2006
21
Deep layer somatosensory cortical neurons initiate spike-and-wave discharges in a genetic model of absence seizures.
Pierre-Olivier Polack, Isabelle Guillemain, Emilie Hu, Colin Deransart, Antoine Depaulis, Stéphane Charpier. J Neurosci 2007
Pierre-Olivier Polack, Isabelle Guillemain, Emilie Hu, Colin Deransart, Antoine Depaulis, Stéphane Charpier. J Neurosci 2007
21
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
Colette Kananura, Karsten Haug, Thomas Sander, Uwe Runge, Wenli Gu, Kerstin Hallmann, Johannes Rebstock, Armin Heils, Ortrud K Steinlein. Arch Neurol 2002
Colette Kananura, Karsten Haug, Thomas Sander, Uwe Runge, Wenli Gu, Kerstin Hallmann, Johannes Rebstock, Armin Heils, Ortrud K Steinlein. Arch Neurol 2002
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Mutations in GABAA receptor subunits associated with genetic epilepsies.
Robert L Macdonald, Jing-Qiong Kang, Martin J Gallagher. J Physiol 2010
Robert L Macdonald, Jing-Qiong Kang, Martin J Gallagher. J Physiol 2010
19
GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition.
Emmanuel Eugène, Christel Depienne, Stéphanie Baulac, Michel Baulac, Jean Marc Fritschy, Eric Le Guern, Richard Miles, Jean Christophe Poncer. J Neurosci 2007
Emmanuel Eugène, Christel Depienne, Stéphanie Baulac, Michel Baulac, Jean Marc Fritschy, Eric Le Guern, Richard Miles, Jean Christophe Poncer. J Neurosci 2007
31
The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.
Jing-Qiong Kang, Robert L Macdonald. J Neurosci 2004
Jing-Qiong Kang, Robert L Macdonald. J Neurosci 2004
19
Enhanced tonic GABAA inhibition in typical absence epilepsy.
David W Cope, Giuseppe Di Giovanni, Sarah J Fyson, Gergely Orbán, Adam C Errington, Magor L Lorincz, Timothy M Gould, David A Carter, Vincenzo Crunelli. Nat Med 2009
David W Cope, Giuseppe Di Giovanni, Sarah J Fyson, Gergely Orbán, Adam C Errington, Magor L Lorincz, Timothy M Gould, David A Carter, Vincenzo Crunelli. Nat Med 2009
18
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
Pamela Lachance-Touchette, Patricia Brown, Caroline Meloche, Peter Kinirons, Line Lapointe, Hélène Lacasse, Anne Lortie, Lionel Carmant, Fiona Bedford, Derek Bowie,[...]. Eur J Neurosci 2011
Pamela Lachance-Touchette, Patricia Brown, Caroline Meloche, Peter Kinirons, Line Lapointe, Hélène Lacasse, Anne Lortie, Lionel Carmant, Fiona Bedford, Derek Bowie,[...]. Eur J Neurosci 2011
22
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
Louise A Harkin, David N Bowser, Leanne M Dibbens, Rita Singh, Fiona Phillips, Robyn H Wallace, Michaella C Richards, David A Williams, John C Mulley, Samuel F Berkovic,[...]. Am J Hum Genet 2002
Louise A Harkin, David N Bowser, Leanne M Dibbens, Rita Singh, Fiona Phillips, Robyn H Wallace, Michaella C Richards, David A Williams, John C Mulley, Samuel F Berkovic,[...]. Am J Hum Genet 2002
17
A novel GABRG2 mutation associated with febrile seizures.
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Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.
Matt T Bianchi, Luyan Song, Helen Zhang, Robert L Macdonald. J Neurosci 2002
Matt T Bianchi, Luyan Song, Helen Zhang, Robert L Macdonald. J Neurosci 2002
15
Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors.
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15
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Patrick Cossette, Lidong Liu, Katéri Brisebois, Haiheng Dong, Anne Lortie, Michel Vanasse, Jean-Marc Saint-Hilaire, Lionel Carmant, Andrei Verner, Wei-Yang Lu,[...]. Nat Genet 2002
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15
Developmental impact of a familial GABAA receptor epilepsy mutation.
Cindy Chiu, Christopher A Reid, Heneu O Tan, Philip J Davies, Frank N Single, Irene Koukoulas, Samuel F Berkovic, Seong-Seng Tan, Rolf Sprengel, Mathew V Jones,[...]. Ann Neurol 2008
Cindy Chiu, Christopher A Reid, Heneu O Tan, Philip J Davies, Frank N Single, Irene Koukoulas, Samuel F Berkovic, Seong-Seng Tan, Rolf Sprengel, Mathew V Jones,[...]. Ann Neurol 2008
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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
Frank H Yu, Massimo Mantegazza, Ruth E Westenbroek, Carol A Robbins, Franck Kalume, Kimberly A Burton, William J Spain, G Stanley McKnight, Todd Scheuer, William A Catterall. Nat Neurosci 2006
15
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface.
Guillaume Frugier, Françoise Coussen, Marie-France Giraud, Marie-Françoise Odessa, Michel B Emerit, Eric Boué-Grabot, Maurice Garret. J Biol Chem 2007
Guillaume Frugier, Françoise Coussen, Marie-France Giraud, Marie-Françoise Odessa, Michel B Emerit, Eric Boué-Grabot, Maurice Garret. J Biol Chem 2007
33
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
Miyabi Tanaka, Richard W Olsen, Marco T Medina, Emily Schwartz, Maria Elisa Alonso, Reyna M Duron, Ramon Castro-Ortega, Iris E Martinez-Juarez, Ignacio Pascual-Castroviejo, Jesus Machado-Salas,[...]. Am J Hum Genet 2008
Miyabi Tanaka, Richard W Olsen, Marco T Medina, Emily Schwartz, Maria Elisa Alonso, Reyna M Duron, Ramon Castro-Ortega, Iris E Martinez-Juarez, Ignacio Pascual-Castroviejo, Jesus Machado-Salas,[...]. Am J Hum Genet 2008
13
Reciprocal inhibitory connections and network synchrony in the mammalian thalamus.
M M Huntsman, D M Porcello, G E Homanics, T M DeLorey, J R Huguenard. Science 1999
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13
On the cellular and network bases of epileptic seizures.
D A McCormick, D Contreras. Annu Rev Physiol 2001
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13
Absence epilepsy in tottering mutant mice is associated with calcium channel defects.
C F Fletcher, C M Lutz, T N O'Sullivan, J D Shaughnessy, R Hawkes, W N Frankel, N G Copeland, N A Jenkins. Cell 1996
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13
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
Leanne M Dibbens, Hua-Jun Feng, Michaella C Richards, Louise A Harkin, Bree L Hodgson, Darren Scott, Misty Jenkins, Steven Petrou, Grant R Sutherland, Ingrid E Scheffer,[...]. Hum Mol Genet 2004
Leanne M Dibbens, Hua-Jun Feng, Michaella C Richards, Louise A Harkin, Bree L Hodgson, Darren Scott, Misty Jenkins, Steven Petrou, Grant R Sutherland, Ingrid E Scheffer,[...]. Hum Mol Genet 2004
13
Neurons that fire together also conspire together: is normal sleep circuitry hijacked to generate epilepsy?
Mark P Beenhakker, John R Huguenard. Neuron 2009
Mark P Beenhakker, John R Huguenard. Neuron 2009
12
Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors.
Mark Farrant, Zoltan Nusser. Nat Rev Neurosci 2005
Mark Farrant, Zoltan Nusser. Nat Rev Neurosci 2005
12
Pathophysiological mechanisms of genetic absence epilepsy in the rat.
L Danober, C Deransart, A Depaulis, M Vergnes, C Marescaux. Prog Neurobiol 1998
L Danober, C Deransart, A Depaulis, M Vergnes, C Marescaux. Prog Neurobiol 1998
12
A new mode of corticothalamic transmission revealed in the Gria4(-/-) model of absence epilepsy.
Jeanne T Paz, Astra S Bryant, Kathy Peng, Lief Fenno, Ofer Yizhar, Wayne N Frankel, Karl Deisseroth, John R Huguenard. Nat Neurosci 2011
Jeanne T Paz, Astra S Bryant, Kathy Peng, Lief Fenno, Ofer Yizhar, Wayne N Frankel, Karl Deisseroth, John R Huguenard. Nat Neurosci 2011
12
The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.
Jing-Qiong Kang, Wangzhen Shen, Chengwen Zhou, Dong Xu, Robert L Macdonald. Nat Neurosci 2015
Jing-Qiong Kang, Wangzhen Shen, Chengwen Zhou, Dong Xu, Robert L Macdonald. Nat Neurosci 2015
20
Thalamic synchrony and dynamic regulation of global forebrain oscillations.
John R Huguenard, David A McCormick. Trends Neurosci 2007
John R Huguenard, David A McCormick. Trends Neurosci 2007
11
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
Jing-Qiong Kang, Wangzhen Shen, Robert L Macdonald. J Neurosci 2006
Jing-Qiong Kang, Wangzhen Shen, Robert L Macdonald. J Neurosci 2006
11
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Yucai Chen, Jianjun Lu, Hong Pan, Yuehua Zhang, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Zhijian Yao,[...]. Ann Neurol 2003
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11
The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation.
Martin J Gallagher, Li Ding, Ankit Maheshwari, Robert L Macdonald. Proc Natl Acad Sci U S A 2007
Martin J Gallagher, Li Ding, Ankit Maheshwari, Robert L Macdonald. Proc Natl Acad Sci U S A 2007
14
De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
11
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Ann J Johnston, Jing-Qiong Kang, Wangzhen Shen, William O Pickrell, Thomas D Cushion, Jeffrey S Davies, Kristin Baer, Jonathan G L Mullins, Carrie L Hammond, Seo-Kyung Chung,[...]. Neurobiol Dis 2014
Ann J Johnston, Jing-Qiong Kang, Wangzhen Shen, William O Pickrell, Thomas D Cushion, Jeffrey S Davies, Kristin Baer, Jonathan G L Mullins, Carrie L Hammond, Seo-Kyung Chung,[...]. Neurobiol Dis 2014
39
Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Xuan Huang, Ciria C Hernandez, Ningning Hu, Robert L Macdonald. Neurobiol Dis 2014
Xuan Huang, Ciria C Hernandez, Ningning Hu, Robert L Macdonald. Neurobiol Dis 2014
40
Intracellular recordings in thalamic neurones during spontaneous spike and wave discharges in rats with absence epilepsy.
D Pinault, N Leresche, S Charpier, J M Deniau, C Marescaux, M Vergnes, V Crunelli. J Physiol 1998
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10
A gain in GABAA receptor synaptic strength in thalamus reduces oscillatory activity and absence seizures.
Claude M Schofield, Max Kleiman-Weiner, Uwe Rudolph, John R Huguenard. Proc Natl Acad Sci U S A 2009
Claude M Schofield, Max Kleiman-Weiner, Uwe Rudolph, John R Huguenard. Proc Natl Acad Sci U S A 2009
20
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
Huihui Sun, Yuehua Zhang, Jianmin Liang, Xiaoyan Liu, Xiuwei Ma, Husheng Wu, Keming Xu, Jiong Qin, Yu Qi, Xiru Wu. J Hum Genet 2008
Huihui Sun, Yuehua Zhang, Jianmin Liang, Xiaoyan Liu, Xiuwei Ma, Husheng Wu, Keming Xu, Jiong Qin, Yu Qi, Xiru Wu. J Hum Genet 2008
21
Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.
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10
The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors.
Tim G Hales, Haiyan Tang, Karen A Bollan, Sara J Johnson, Dale P King, Neil A McDonald, Aixin Cheng, Christopher N Connolly. Mol Cell Neurosci 2005
Tim G Hales, Haiyan Tang, Karen A Bollan, Sara J Johnson, Dale P King, Neil A McDonald, Aixin Cheng, Christopher N Connolly. Mol Cell Neurosci 2005
19
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
Jing-Qiong Kang, Wangzhen Shen, Robert L Macdonald. J Neurosci 2009
Jing-Qiong Kang, Wangzhen Shen, Robert L Macdonald. J Neurosci 2009
14
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
Mengnan Tian, Robert L Macdonald. J Neurosci 2012
Mengnan Tian, Robert L Macdonald. J Neurosci 2012
41
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors.
Feyza Sancar, Cynthia Czajkowski. J Biol Chem 2004
Feyza Sancar, Cynthia Czajkowski. J Biol Chem 2004
19
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.
Carla Marini, Louise A Harkin, Robyn H Wallace, John C Mulley, Ingrid E Scheffer, Samuel F Berkovic. Brain 2003
Carla Marini, Louise A Harkin, Robyn H Wallace, John C Mulley, Ingrid E Scheffer, Samuel F Berkovic. Brain 2003
10
Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit.
Fazal M Arain, Kelli L Boyd, Martin J Gallagher. Epilepsia 2012
Fazal M Arain, Kelli L Boyd, Martin J Gallagher. Epilepsia 2012
21
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
Ligia A Papale, Barbara Beyer, Julie M Jones, Lisa M Sharkey, Sergio Tufik, Michael Epstein, Verity A Letts, Miriam H Meisler, Wayne N Frankel, Andrew Escayg. Hum Mol Genet 2009
Ligia A Papale, Barbara Beyer, Julie M Jones, Lisa M Sharkey, Sergio Tufik, Michael Epstein, Verity A Letts, Miriam H Meisler, Wayne N Frankel, Andrew Escayg. Hum Mol Genet 2009
12
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
Katharine N Gurba, Ciria C Hernandez, Ningning Hu, Robert L Macdonald. J Biol Chem 2012
Katharine N Gurba, Ciria C Hernandez, Ningning Hu, Robert L Macdonald. J Biol Chem 2012
25
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.