A citation-based method for searching scientific literature

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, Mary Connolly, Thorsten Stanley, Michael Harbord, Frederick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G Jones, William K Seltzer, Alison Gardner, Grant Sutherland, Samuel F Berkovic, John C Mulley, Ingrid E Scheffer. Brain 2007
Times Cited: 345







List of co-cited articles
1043 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
785
36

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
24

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
925
23

Genotype-phenotype associations in SCN1A-related epilepsies.
S M Zuberi, A Brunklaus, R Birch, E Reavey, J Duncan, G H Forbes. Neurology 2011
142
23

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
643
22

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
693
21

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
225
21

The core Dravet syndrome phenotype.
Charlotte Dravet. Epilepsia 2011
262
20

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
405
18

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
A Brunklaus, R Ellis, E Reavey, G H Forbes, S M Zuberi. Brain 2012
173
18

The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Heng Meng, Hai-Qing Xu, Lu Yu, Guo-Wang Lin, Na He, Tao Su, Yi-Wu Shi, Bin Li, Jie Wang, Xiao-Rong Liu,[...]. Hum Mutat 2015
93
19

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.
Ingrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W Mathern, Solomon L Moshé,[...]. Epilepsia 2017
17

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard,[...]. Brain 2017
201
17

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
499
16

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve R F Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova,[...]. Ann Neurol 2012
284
16

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
265
16

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan,[...]. Nat Genet 2015
142
15

The phenotypic spectrum of SCN8A encephalopathy.
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen,[...]. Neurology 2015
162
14

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
R H Wallace, I E Scheffer, S Barnett, M Richards, L Dibbens, R R Desai, T Lerman-Sagie, D Lev, A Mazarib, N Brand,[...]. Am J Hum Genet 2001
255
13

NaV1.1 channels and epilepsy.
William A Catterall, Franck Kalume, John C Oakley. J Physiol 2010
238
13

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Johannes R Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Robert J Harvey, Victoria M James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel,[...]. Ann Neurol 2014
129
12

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
147
12


Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Johannes R Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki,[...]. Epilepsia 2012
228
12

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Claudia B Catarino, Joan Y W Liu, Ioannis Liagkouras, Vaneesha S Gibbons, Robyn W Labrum, Rachael Ellis, Cathy Woodward, Mary B Davis, Shelagh J Smith, J Helen Cross,[...]. Brain 2011
119
11

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel-An, Cécile Saint-Martin, Delphine Bouteiller, Denis Graber, Marie-Anne Barthez-Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet,[...]. J Med Genet 2010
95
11

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
11

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
N A Singh, C Charlier, D Stauffer, B R DuPont, R J Leach, R Melis, G M Ronen, I Bjerre, T Quattlebaum, J V Murphy,[...]. Nat Genet 1998
871
11

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
254
11


Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller,[...]. Ann Neurol 2016
101
11

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
Tateki Fujiwara, Takashi Sugawara, Emi Mazaki-Miyazaki, Yukitoshi Takahashi, Katsuyuki Fukushima, Masako Watanabe, Keita Hara, Tateki Morikawa, Kazuichi Yagi, Kazuhiro Yamakawa,[...]. Brain 2003
228
11

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
773
11

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels,[...]. Neurology 2017
43
25

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura,[...]. Nat Genet 2008
350
10


GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic,[...]. Ann Clin Transl Neurol 2014
138
10

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
242
10


Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst,[...]. J Med Genet 2016
118
10

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
119
10

A long-term follow-up study of Dravet syndrome up to adulthood.
Mari Akiyama, Katsuhiro Kobayashi, Harumi Yoshinaga, Yoko Ohtsuka. Epilepsia 2010
111
10

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
10

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio,[...]. Neurology 2017
40
25

Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.
Sung Han, Chao Tai, Ruth E Westenbroek, Frank H Yu, Christine S Cheah, Gregory B Potter, John L Rubenstein, Todd Scheuer, Horacio O de la Iglesia, William A Catterall. Nature 2012
372
9

SCN1A mutations and epilepsy.
John C Mulley, Ingrid E Scheffer, Steven Petrou, Leanne M Dibbens, Samuel F Berkovic, Louise A Harkin. Hum Mutat 2005
242
9

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Ingrid E Scheffer, Yue-Hua Zhang, Floor E Jansen, Leanne Dibbens. Brain Dev 2009
107
9

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
I Ogiwara, K Ito, Y Sawaishi, H Osaka, E Mazaki, I Inoue, M Montal, T Hashikawa, T Shike, T Fujiwara,[...]. Neurology 2009
137
9

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
210
9

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,[...]. Nat Genet 2013
214
9


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.