A citation-based method for searching scientific literature

C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, W Carpentier, B Keren, B Abert, A Gautier, S Baulac, A Arzimanoglou, C Cazeneuve, R Nabbout, E LeGuern. J Med Genet 2009
Times Cited: 226







List of co-cited articles
889 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
795
34

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
344
28

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
653
27

Genotype-phenotype associations in SCN1A-related epilepsies.
S M Zuberi, A Brunklaus, R Birch, E Reavey, J Duncan, G H Forbes. Neurology 2011
147
24

The core Dravet syndrome phenotype.
Charlotte Dravet. Epilepsia 2011
276
22

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
99
20

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
511
19

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
174
19

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
229
16

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

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
935
15

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Carla Marini, Davide Mei, Teresa Temudo, Anna Rita Ferrari, Daniela Buti, Charlotte Dravet, Ana I Dias, Ana Moreira, Eulalia Calado, Stefano Seri,[...]. Epilepsia 2007
125
14


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
13

Mortality in Dravet syndrome.
Monica S Cooper, Anne Mcintosh, Douglas E Crompton, Jacinta M McMahon, Amy Schneider, Kevin Farrell, Vijeya Ganesan, Deepak Gill, Sara Kivity, Tally Lerman-Sagie,[...]. Epilepsy Res 2016
112
13

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
412
12

Dravet syndrome: the long-term outcome.
Pierre Genton, Reana Velizarova, Charlotte Dravet. Epilepsia 2011
143
12

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
699
12

Incidence of Dravet Syndrome in a US Population.
Yvonne W Wu, Joseph Sullivan, Sharon S McDaniel, Miriam H Meisler, Eileen M Walsh, Sherian Xu Li, Michael W Kuzniewicz. Pediatrics 2015
96
12

Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Andrew Escayg, Alan L Goldin. Epilepsia 2010
215
11

A long-term follow-up study of Dravet syndrome up to adulthood.
Mari Akiyama, Katsuhiro Kobayashi, Harumi Yoshinaga, Yoko Ohtsuka. Epilepsia 2010
114
11

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
122
11

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas,[...]. Orphanet J Rare Dis 2013
89
12

A catalog of SCN1A variants.
Christoph Lossin. Brain Dev 2009
143
11

NaV1.1 channels and epilepsy.
William A Catterall, Franck Kalume, John C Oakley. J Physiol 2010
246
11

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
380
11

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
149
11

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
R Nabbout, E Gennaro, B Dalla Bernardina, O Dulac, F Madia, E Bertini, G Capovilla, C Chiron, G Cristofori, M Elia,[...]. Neurology 2003
186
11

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.
Elaine C Wirrell, Linda Laux, Elizabeth Donner, Nathalie Jette, Kelly Knupp, Mary Anne Meskis, Ian Miller, Joseph Sullivan, Michelle Welborn, Anne T Berg. Pediatr Neurol 2017
105
11

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, Sumimasa Yamashita, Eiji Nakagawa, Kazuhiro Haginoya, Jun Tohyama, Mitsuko Okuda, Takahito Wada, Shuichi Shimakawa,[...]. Neurology 2013
130
10

Severe myoclonic epilepsy in infancy: Dravet syndrome.
Charlotte Dravet, Michelle Bureau, Hirokazu Oguni, Yukio Fukuyama, Ozlem Cokar. Adv Neurol 2005
183
10

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
96
10

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
353
10

The genetics of Dravet syndrome.
Carla Marini, Ingrid E Scheffer, Rima Nabbout, Arvid Suls, Peter De Jonghe, Federico Zara, Renzo Guerrini. Epilepsia 2011
155
10

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer,[...]. PLoS Genet 2009
164
10

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
259
10

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
229
10

Sudden unexpected death in a mouse model of Dravet syndrome.
Franck Kalume, Ruth E Westenbroek, Christine S Cheah, Frank H Yu, John C Oakley, Todd Scheuer, William A Catterall. J Clin Invest 2013
157
9

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome.
Christine S Cheah, Frank H Yu, Ruth E Westenbroek, Franck K Kalume, John C Oakley, Gregory B Potter, John L Rubenstein, William A Catterall. Proc Natl Acad Sci U S A 2012
173
9

Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome.
Chao Tai, Yasuyuki Abe, Ruth E Westenbroek, Todd Scheuer, William A Catterall. Proc Natl Acad Sci U S A 2014
121
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
136
9

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
120
9

Pitfalls in genetic testing: the story of missed SCN1A mutations.
Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L Carvill, Johanna Jaehn, Anna-Kaisa Anttonen, Eva Brilstra, Hande S Caglayan, Carolien G de Kovel, Christel Depienne,[...]. Mol Genet Genomic Med 2016
39
23

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Hirofumi Kodera, Mitsuhiro Kato, Alex S Nord, Tom Walsh, Ming Lee, Gaku Yamanaka, Jun Tohyama, Kazuyuki Nakamura, Eiji Nakagawa, Tae Ikeda,[...]. Epilepsia 2013
64
14

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
120
9

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
9

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
48
18

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
8

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.
Akshitkumar M Mistry, Christopher H Thompson, Alison R Miller, Carlos G Vanoye, Alfred L George, Jennifer A Kearney. Neurobiol Dis 2014
92
8

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn C J Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai,[...]. J Med Genet 2015
81
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.