A citation-based method for searching scientific literature

Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna A Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M McMahon, Bobby Koeleman, Mandy Harris, Kees Braun, Carolien G F de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, Monica Troncoso, Ledia Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E Scheffer, Heather C Mefford, Rikke S Møller. Neurology 2015
Times Cited: 167







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



Times Cited
  Times     Co-cited
Similarity


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
47

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
212
38

The phenotype of SCN8A developmental and epileptic encephalopathy.
Elena Gardella, Carla Marini, Marina Trivisano, Mark P Fitzgerald, Michael Alber, Katherine B Howell, Francesca Darra, Sabrina Siliquini, Bigna K Bölsterli, Silva Masnada,[...]. Neurology 2018
64
59

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
105
36


Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Jacy L Wagnon, Bryan S Barker, James A Hounshell, Charlotte A Haaxma, Amy Shealy, Timothy Moss, Sumit Parikh, Ricka D Messer, Manoj K Patel, Miriam H Meisler. Ann Clin Transl Neurol 2015
65
49

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
35

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Ragna S Boerma, Kees P Braun, Marcel P H van den Broek, Frederique M C van Berkestijn, Marielle E Swinkels, Eveline O Hagebeuk, Dick Lindhout, Marjan van Kempen, Maartje Boon, Joost Nicolai,[...]. Neurotherapeutics 2016
81
33

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
27

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Chihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, Tally Lerman-Sagie, Dorit Lev, Hiroshi Terashima, Masaya Kubota, Hisashi Kawawaki, Mayumi Matsufuji, Yasuko Kojima,[...]. Epilepsia 2014
89
29

SCN8A encephalopathy: Research progress and prospects.
Miriam H Meisler, Guy Helman, Michael F Hammer, Brandy E Fureman, William D Gaillard, Alan L Goldin, Shinichi Hirose, Atsushi Ishii, Barbara L Kroner, Christoph Lossin,[...]. Epilepsia 2016
76
32

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
25

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.
Jacy L Wagnon, Matthew J Korn, Rachel Parent, Taylor A Tarpey, Julie M Jones, Michael F Hammer, Geoffrey G Murphy, Jack M Parent, Miriam H Meisler. Hum Mol Genet 2015
83
28

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
Mark Estacion, Janelle E O'Brien, Allison Conravey, Michael F Hammer, Stephen G Waxman, Sulayman D Dib-Hajj, Miriam H Meisler. Neurobiol Dis 2014
74
32

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg, Katherine L Helbig, Christina E Hoei-Hansen, Mahmoud Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C Schneider,[...]. Brain 2019
38
63

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
Carolien G F de Kovel, Miriam H Meisler, Eva H Brilstra, Frederique M C van Berkestijn, Ruben van 't Slot, Stef van Lieshout, Isaac J Nijman, Janelle E O'Brien, Michael F Hammer, Mark Estacion,[...]. Epilepsy Res 2014
66
34

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, Dimira Tambunan, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Damian Clark, Jeremy L Freeman, Sophie Calvert,[...]. Neurology 2015
131
22

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
22

Loss-of-function variants of SCN8A in intellectual disability without seizures.
Jacy L Wagnon, Bryan S Barker, Matteo Ottolini, Young Park, Alicia Volkheimer, Purnima Valdez, Marielle E M Swinkels, Manoj K Patel, Miriam H Meisler. Neurol Genet 2017
37
59

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.
Rosie K A Bunton-Stasyshyn, Jacy L Wagnon, Eric R Wengert, Bryan S Barker, Alexa Faulkner, Pravin K Wagley, Kritika Bhatia, Julie M Jones, Marissa R Maniaci, Jack M Parent,[...]. Brain 2019
41
51


Early mortality in SCN8A-related epilepsies.
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli. Epilepsy Res 2018
29
62

The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.
Bryan S Barker, Matteo Ottolini, Jacy L Wagnon, Rachel M Hollander, Miriam H Meisler, Manoj K Patel. Epilepsia 2016
31
54

Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.
Luis F Lopez-Santiago, Yukun Yuan, Jacy L Wagnon, Jacob M Hull, Chad R Frasier, Heather A O'Malley, Miriam H Meisler, Lori L Isom. Proc Natl Acad Sci U S A 2017
44
38

The spectrum of intermediate SCN8A-related epilepsy.
Katrine M Johannesen, Elena Gardella, Alejandra C Encinas, Anna-Elina Lehesjoki, Tarja Linnankivi, Michael B Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, Maria J Miranda, Deb K Pal,[...]. Epilepsia 2019
28
60

Autosomal dominant SCN8A mutation with an unusually mild phenotype.
G Anand, F Collett-White, A Orsini, S Thomas, S Jayapal, N Trump, Z Zaiwalla, S Jayawant. Eur J Paediatr Neurol 2016
26
61

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
16

Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Andrew Escayg, Alan L Goldin. Epilepsia 2010
215
16

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
Jacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, Eric R Wengert, Kailash P Bhatia, Bettina Balint, Miryam Carecchio, Nicholas W Wood, Manoj K Patel, Miriam H Meisler. Hum Mutat 2018
20
80

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
15

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
15

Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.
Matteo Ottolini, Bryan S Barker, Ronald P Gaykema, Miriam H Meisler, Manoj K Patel. J Neurosci 2017
29
51

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
14

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals, Tarmo Annilo, Mari Nelis, Katrin Ounap, Tiia Reimand, Inga Talvik, Pilvi Ilves,[...]. J Child Neurol 2014
49
28

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
290
14

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
Weijing Kong, Yujia Zhang, Yang Gao, Xiaoyan Liu, Kai Gao, Han Xie, Jingmin Wang, Ye Wu, Yuehua Zhang, Xiru Wu,[...]. Epilepsia 2015
45
28

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
13

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
John J Millichap, Kristen L Park, Tammy Tsuchida, Bruria Ben-Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M Levisohn, Eric Marsh, Srishti Nangia,[...]. Neurol Genet 2016
99
13

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
132
13

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
Melinda S Martin, Bin Tang, Ligia A Papale, Frank H Yu, William A Catterall, Andrew Escayg. Hum Mol Genet 2007
142
13

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò,[...]. Hum Mutat 2017
89
14

The genetic landscape of the epileptic encephalopathies of infancy and childhood.
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
258
13

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee A McKnight. Epilepsia 2018
92
14

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
12


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
12

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
80
15

Mutations in SCN3A cause early infantile epileptic encephalopathy.
Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D DeBrosse, A Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L Helbig,[...]. Ann Neurol 2018
45
26

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
11

Targeted treatment of migrating partial seizures of infancy with quinidine.
David Bearden, Alanna Strong, Jessica Ehnot, Marissa DiGiovine, Dennis Dlugos, Ethan M Goldberg. Ann Neurol 2014
125
11


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.