A citation-based method for searching scientific literature

Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line H G Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller, Steffen Syrbe, Andreas Merkenschlager, Thomas Bast, Bernhard Steinhoff, Peter Nürnberg, Yuan Mang, Louise Bakke Møller, Pia Gellert, Sarah E Heron, Leanne M Dibbens, Sarah Weckhuysen, Hans Atli Dahl, Saskia Biskup, Niels Tommerup, Helle Hjalgrim, Holger Lerche, Sándor Beniczky, Yvonne G Weber. Ann Neurol 2016
Times Cited: 101







List of co-cited articles
1293 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
45

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
33

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
128
29

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang,[...]. Nat Genet 2011
297
26

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
25

The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
78
29

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
78
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
73
31

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
55
41

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
21


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
76




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
77
24

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
61
31

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
19

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
M K Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, D R Lynch, K D Mathews, K J Swoboda, J Harris,[...]. Neurology 2004
237
17

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
64
26

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
17

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
87
19

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
36
47

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
16

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
86
17

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
70
21

Sodium-channel defects in benign familial neonatal-infantile seizures.
Sarah E Heron, Kathryn M Crossland, Eva Andermann, Hilary A Phillips, Allison J Hall, Andrew Bleasel, Michael Shevell, Suha Mercho, Marie-Helene Seni, Marie-Christine Guiot,[...]. Lancet 2002
245
15

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
207
15

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
229
15

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
369
15

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
15

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
36
41

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
126
14


Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
54
25

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang,[...]. Mov Disord 2018
21
66

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Marion Delcourt, Florence Riant, Josette Mancini, Mathieu Milh, Vincent Navarro, Emmanuel Roze, Véronique Humbertclaude, Christian Korff, Vincent Des Portes, Pierre Szepetowski,[...]. J Neurol Neurosurg Psychiatry 2015
42
30

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir,[...]. Am J Hum Genet 2012
173
13

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
80
16

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
13

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Rikke S Møller, Line H G Larsen, Katrine M Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, Maria J Miranda, Muhammad Farooq, Jens E K Nielsen, Lene Lavard Svendsen,[...]. Mol Syndromol 2016
60
21

The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano. Mov Disord 2017
36
36

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
27
48

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
12

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
247
12

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
24

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D O Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa,[...]. Cell Rep 2012
170
12

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
33
36

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
Zhong-Bin Zhang, Mao-Qiang Tian, Kai Gao, Yu-Wu Jiang, Ye Wu. Mov Disord 2015
32
37

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney,[...]. Arch Neurol 2004
109
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.