A citation-based method for searching scientific literature

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, Ingrid E Scheffer, Steven Petrou. Am J Hum Genet 2002
Times Cited: 324







List of co-cited articles
1181 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
550
43

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
574
43

A novel GABRG2 mutation associated with febrile seizures.
D Audenaert, E Schwartz, K G Claeys, L Claes, L Deprez, A Suls, T Van Dyck, L Lagae, C Van Broeckhoven, R L Macdonald,[...]. Neurology 2006
107
32

A functional null mutation of SCN1B in a patient with Dravet syndrome.
Gustavo A Patino, Lieve R F Claes, Luis F Lopez-Santiago, Emily A Slat, Raja S R Dondeti, Chunling Chen, Heather A O'Malley, Charles B B Gray, Haruko Miyazaki, Nobuyuki Nukina,[...]. J Neurosci 2009
168
31

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
209
30

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
977
30

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
426
29


De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jonghe. Am J Hum Genet 2001
825
25

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
47
53

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Gemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, Corinna Hartmann, Rikke S Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J O'Roak, Steve Petrou,[...]. Neurology 2014
160
25

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
247
24

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert,[...]. Nat Genet 2013
429
24

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
R H Wallace, D W Wang, R Singh, I E Scheffer, A L George, H A Phillips, K Saar, A Reis, E W Johnson, G R Sutherland,[...]. Nat Genet 1998
780
23

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
60
38

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia,[...]. PLoS Genet 2009
233
22

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
77
28

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
133
20

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
A Escayg, B T MacDonald, M H Meisler, S Baulac, G Huberfeld, I An-Gourfinkel, A Brice, E LeGuern, B Moulard, D Chaigne,[...]. Nat Genet 2000
714
19

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
690
19

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.
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,[...]. Proc Natl Acad Sci U S A 2007
144
18

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
106
18

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio,[...]. Nat Genet 2012
283
18

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.
Ikuo Ogiwara, Hiroyuki Miyamoto, Noriyuki Morita, Nafiseh Atapour, Emi Mazaki, Ikuyo Inoue, Tamaki Takeuchi, Shigeyoshi Itohara, Yuchio Yanagawa, Kunihiko Obata,[...]. J Neurosci 2007
541
18

The spectrum of SCN1A-related infantile epileptic encephalopathies.
Louise A Harkin, Jacinta M McMahon, Xenia Iona, Leanne Dibbens, James T Pelekanos, Sameer M Zuberi, Lynette G Sadleir, Eva Andermann, Deepak Gill, Kevin Farrell,[...]. Brain 2007
353
17


Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Anne T Berg, Samuel F Berkovic, Martin J Brodie, Jeffrey Buchhalter, J Helen Cross, Walter van Emde Boas, Jerome Engel, Jacqueline French, Tracy A Glauser, Gary W Mathern,[...]. Epilepsia 2010
16

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
54
29

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Jing-Qiong Kang, Wangzhen Shen, Robert L Macdonald. Ann Neurol 2013
28
57

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.
Atsushi Ishii, Takeshi Kanaumi, Miwa Sohda, Yoshio Misumi, Bo Zhang, Naoto Kakinuma, Yoshiko Haga, Kazuyoshi Watanabe, Sen Takeda, Motohiro Okada,[...]. Epilepsy Res 2014
25
64

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
28
57



De novo GABRG2 mutations associated with epileptic encephalopathies.
Dingding Shen, Ciria C Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N Datta, Steffen Leiz, Steffi Patzer,[...]. Brain 2017
54
27

Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors.
U Günther, J Benson, D Benke, J M Fritschy, G Reyes, F Knoflach, F Crestani, A Aguzzi, M Arigoni, Y Lang,[...]. Proc Natl Acad Sci U S A 1995
356
14

Decreased GABAA-receptor clustering results in enhanced anxiety and a bias for threat cues.
F Crestani, M Lorez, K Baer, C Essrich, D Benke, J P Laurent, C Belzung, J M Fritschy, B Lüscher, H Mohler. Nat Neurosci 1999
377
14

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, W Carpentier, B Keren, B Abert, A Gautier, S Baulac,[...]. J Med Genet 2009
236
14

The core Dravet syndrome phenotype.
Charlotte Dravet. Epilepsia 2011
308
14

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
Ikuo Ogiwara, Tojo Nakayama, Tetsushi Yamagata, Hideyuki Ohtani, Emi Mazaki, Shigeru Tsuchiya, Yushi Inoue, Kazuhiro Yamakawa. Epilepsia 2012
58
24

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,[...]. Nat Genet 2013
262
14

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo,[...]. Am J Hum Genet 2012
271
14

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
Xiuyu Shi, Sawa Yasumoto, Eiji Nakagawa, Tatsuya Fukasawa, Satoshi Uchiya, Shinichi Hirose. Brain Dev 2009
77
16

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Tara Klassen, Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana,[...]. Cell 2011
221
13


GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Gaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, Natalia Lozovaya, Audrey Labalme, Nadia Boutry-Kryza, Manal Salmi, Timur Tsintsadze, Laura Addis, Jacques Motte,[...]. Nat Genet 2013
265
13

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Caroline Nava, Carine Dalle, Agnès Rastetter, Pasquale Striano, Carolien G F de Kovel, Rima Nabbout, Claude Cancès, Dorothée Ville, Eva H Brilstra, Giuseppe Gobbi,[...]. Nat Genet 2014
130
13

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.
C Essrich, M Lorez, J A Benson, J M Fritschy, B Lüscher. Nat Neurosci 1998
689
12

Mutations in GABAA receptor subunits associated with genetic epilepsies.
Robert L Macdonald, Jing-Qiong Kang, Martin J Gallagher. J Physiol 2010
157
12

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Arvid Suls, Johanna A Jaehn, Angela Kecskés, Yvonne Weber, Sarah Weckhuysen, Dana C Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley,[...]. Am J Hum Genet 2013
130
12

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn,[...]. Nat Genet 2012
226
12


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.