A citation-based method for searching scientific literature

Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betul Baykan, Edith Said, Meral Topcu, Patrizia Riguzzi, Mary D King, Cigdem Ozkara, Danielle M Andrade, Bernt A Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J Espay, Birgit Kauffmann, Michael Duchowny, Rikke S Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben-Zeev, Kaitlin E Samocha, Mark J Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki. Nat Genet 2015
Times Cited: 157







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



Times Cited
  Times     Co-cited
Similarity



Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos D Korczyn, Francesca Bisulli, Carlo Di Bonaventura,[...]. Ann Neurol 2017
31
61

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
16

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
222
13

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
277
10

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
883
10

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
132
10

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
955
10

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattea J Finelli, Patrik Verstreken, Aaron Cardon, Barbara Gnidovec Stražišar, J Lloyd Holder, Gaetan Lesca,[...]. Neurology 2016
67
14

Quinidine in the treatment of KCNT1-positive epilepsies.
Mohamad A Mikati, Yong-Hui Jiang, Michael Carboni, Vandana Shashi, Slave Petrovski, Rebecca Spillmann, Carol J Milligan, Melody Li, Annette Grefe, Allyn McConkie,[...]. Ann Neurol 2015
107
9

Progressive myoclonic epilepsies: definitive and still undetermined causes.
Silvana Franceschetti, Roberto Michelucci, Laura Canafoglia, Pasquale Striano, Antonio Gambardella, Adriana Magaudda, Paolo Tinuper, Angela La Neve, Edoardo Ferlazzo, Giuseppe Gobbi,[...]. Neurology 2014
56
16

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti,[...]. Am J Hum Genet 2010
110
8

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
182
8

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Carol J Milligan, Melody Li, Elena V Gazina, Sarah E Heron, Umesh Nair, Chantel Trager, Christopher A Reid, Anu Venkat, Donald P Younkin, Dennis J Dlugos,[...]. Ann Neurol 2014
147
8

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
148
8

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
298
8


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
422
8

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Krishna R Veeramah, Laurel Johnstone, Tatiana M Karafet, Daniel Wolf, Ryan Sprissler, John Salogiannis, Asa Barth-Maron, Michael E Greenberg, Till Stuhlmann, Stefanie Weinert,[...]. Epilepsia 2013
176
8

Loss of Function of KCNC1 is associated with intellectual disability without seizures.
Karine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart, Thierry Bienvenu. Eur J Hum Genet 2017
14
57

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
8


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
818
7

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Hilary C Martin, Grace E Kim, Alistair T Pagnamenta, Yoshiko Murakami, Gemma L Carvill, Esther Meyer, Richard R Copley, Andrew Rimmer, Giulia Barcia, Matthew R Fleming,[...]. Hum Mol Genet 2014
163
7

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
127
7

Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.
Francesca Rizzo, Paolo Ambrosino, Anna Guacci, Massimiliano Chetta, Giovanna Marchese, Teresa Rocco, Maria Virginia Soldovieri, Laura Manocchio, Ilaria Mosca, Gianluca Casara,[...]. Mol Cell Neurosci 2016
38
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
7

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Mark A Corbett, Michael Schwake, Melanie Bahlo, Leanne M Dibbens, Meng Lin, Luke C Gandolfo, Danya F Vears, John D O'Sullivan, Thomas Robertson, Marta A Bayly,[...]. Am J Hum Genet 2011
77
9

De novo KCNB1 mutations in epileptic encephalopathy.
Ali Torkamani, Kevin Bersell, Benjamin S Jorge, Robert L Bjork, Jennifer R Friedman, Cinnamon S Bloss, Julie Cohen, Siddharth Gupta, Sakkubai Naidu, Carlos G Vanoye,[...]. Ann Neurol 2014
85
8

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui,[...]. Nat Genet 2005
381
7

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
O K Steinlein, J C Mulley, P Propping, R H Wallace, H A Phillips, G R Sutherland, I E Scheffer, S F Berkovic. Nat Genet 1995
828
7

Mutations in KCNT1 cause a spectrum of focal epilepsies.
Rikke S Møller, Sarah E Heron, Line H G Larsen, Chiao Xin Lim, Michael G Ricos, Marta A Bayly, Marjan J A van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley,[...]. Epilepsia 2015
72
9

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley,[...]. PLoS Genet 2011
140
7

Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.
Adriana Magaudda, Edoardo Ferlazzo, Vi-Hong Nguyen, Pierre Genton. Epilepsia 2006
73
8

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Gökce Orhan, Merle Bock, Dorien Schepers, Elena I Ilina, Stephanie Nadine Reichel, Heidi Löffler, Nicole Jezutkovic, Sarah Weckhuysen, Simone Mandelstam, Arvid Suls,[...]. Ann Neurol 2014
133
6

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
276
6

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Nicholas M Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G Correa, Sergio D J Pena, Dara McCreary, Tiago R Magalhães, Sean Ennis, Sally A Lynch,[...]. Epilepsia 2016
106
6

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
106
6

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
324
6

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
256
6

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
267
6



SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
L M Dibbens, R Michelucci, A Gambardella, F Andermann, G Rubboli, M A Bayly, T Joensuu, D F Vears, S Franceschetti, L Canafoglia,[...]. Ann Neurol 2009
64
9

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.
Laura Canafoglia, Angela Robbiano, Davide Pareyson, Ferruccio Panzica, Lorenzo Nanetti, Anna Rita Giovagnoli, Anna Venerando, Cinzia Gellera, Silvana Franceschetti, Federico Zara. Neurology 2014
27
22

Progressive myoclonus epilepsies: specific causes and diagnosis.
S F Berkovic, F Andermann, S Carpenter, L S Wolfe. N Engl J Med 1986
257
6

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Lysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, Rikke S Møller, Annemarie M Vlaar, Kari M Aaberg, Iris Marquardt, Luke C Gandolfo, Michèl Willemsen, Erik-Jan Kamsteeg,[...]. Brain 2013
36
16

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Michael F Waters, Natali A Minassian, Giovanni Stevanin, Karla P Figueroa, John P A Bannister, Dagmar Nolte, Allan F Mock, Virgilio Gerald H Evidente, Dominic B Fee, Ulrich Müller,[...]. Nat Genet 2006
205
6

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
778
6

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
548
6


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.