A citation-based method for searching scientific literature

P Szepetowski, J Rochette, P Berquin, C Piussan, G M Lathrop, A P Monaco. Am J Hum Genet 1997
Times Cited: 235







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



Times Cited
  Times     Co-cited
Similarity


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
320
49

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
258
47

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
185
43

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Jun-Ling Wang, Li Cao, Xun-Hua Li, Zheng-Mao Hu, Jia-Da Li, Jian-Guo Zhang, Yu Liang, San-A, Nan Li, Su-Qin Chen,[...]. Brain 2011
206
37

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
R Caraballo, S Pavek, A Lemainque, M Gastaldi, B Echenne, J Motte, P Genton, R Cersósimo, V Humbertclaude, N Fejerman,[...]. Am J Hum Genet 2001
104
35

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
181
32

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
H a Tomita, S Nagamitsu, K Wakui, Y Fukushima, K Yamada, M Sadamatsu, A Masui, T Konishi, T Matsuishi, M Aihara,[...]. Am J Hum Genet 1999
122
30


A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
L B Bennett, E S Roach, A M Bowcock. Neurology 2000
95
27

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
Jingyun Li, Xilin Zhu, Xin Wang, Wei Sun, Bing Feng, Te Du, Bei Sun, Fenghe Niu, Hua Wei, Xiaopan Wu,[...]. J Med Genet 2012
76
34

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
K J Swoboda, B Soong, C McKenna, E R Brunt, M Litt, J F Bale, T Ashizawa, L B Bennett, A M Bowcock, E S Roach,[...]. Neurology 2000
94
26

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
210
25

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
Qing Liu, Zhan Qi, Xin-Hua Wan, Jing-Yun Li, Lei Shi, Qiang Lu, Xiang-Qin Zhou, Lei Qiao, Li-Wen Wu, Xiu-Qin Liu,[...]. J Med Genet 2012
75
33

PRRT2 mutations are the major cause of benign familial infantile seizures.
Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama,[...]. Hum Mutat 2012
69
34


Benign infantile familial convulsions.
F Vigevano, L Fusco, M Di Capua, S Ricci, R Sebastianelli, P Lucchini. Eur J Pediatr 1992
181
23

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
Sian D Spacey, Enza-Maria Valente, Gurusidheshwar M Wali, Thomas T Warner, Paul R Jarman, Anthony H V Schapira, Peter H Dixon, Mary B Davis, Kailash P Bhatia, Nicholas W Wood. Mov Disord 2002
45
48


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
234
22

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H Ahn, Georg W J Auburger, Massimo Pandolfo, Hubert Kwiecinski, David A Grimes, Anthony E Lang, Jorgen E Nielsen,[...]. Hum Mol Genet 2004
106
20

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
M K Bruno, H-Y Lee, G W J Auburger, A Friedman, J E Nielsen, A E Lang, E Bertini, P Van Bogaert, Y Averyanov, M Hallett,[...]. Neurology 2007
91
21

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
Taeko Kikuchi, Masayo Nomura, Hiroaki Tomita, Naoki Harada, Kazuaki Kanai, Tohru Konishi, Ayako Yasuda, Masato Matsuura, Nobumasa Kato, Koh-Ichiro Yoshiura,[...]. J Hum Genet 2007
33
57

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura,[...]. J Hum Genet 2012
67
28

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
R Guerrini, P Bonanni, N Nardocci, L Parmeggiani, M Piccirilli, M De Fusco, P Aridon, A Ballabio, R Carrozzo, G Casari. Ann Neurol 1999
119
18


Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.
Li Cao, Xiao-Jun Huang, Lan Zheng, Qin Xiao, Xi-Jin Wang, Sheng-Di Chen. Parkinsonism Relat Disord 2012
46
39

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Aurélie Méneret, David Grabli, Christel Depienne, Cécile Gaudebout, Fabienne Picard, Alexandra Dürr, Isabelle Lagroua, Delphine Bouteiller, Cyril Mignot, Diane Doummar,[...]. Neurology 2012
72
25

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
110
17

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
252
17


PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini,[...]. Neurology 2012
62
27

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini. Neurology 2012
80
21

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
387
16

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, Russell C Dale, Manju A Kurian, Susanne A Schneider, G M Wali, Tim Counihan, Anthony H Schapira, Sian D Spacey,[...]. Neurology 2012
118
16

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.
M Guipponi, F Rivier, F Vigevano, C Beck, A Crespel, B Echenne, P Lucchini, R Sebastianelli, M Baldy-Moulinier, A Malafosse. Hum Mol Genet 1997
157
15

Benign complex partial epilepsies in infancy.
K Watanabe, N Yamamoto, T Negoro, E Takaesu, K Aso, S Furune, I Takahashi. Pediatr Neurol 1987
80
18


Paroxysmal dyskinesias.
Kailash P Bhatia. Mov Disord 2011
110
15

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, Annick Massacrier, Manal Salmi, Marc Bataillard, Clotilde Boulay, Roberto Caraballo, Natalio Fejerman, Pierre Genton,[...]. Neurology 2012
70
21

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.
Rianne van Vliet, Guido Breedveld, Johanneke de Rijk-van Andel, Eva Brilstra, Nienke Verbeek, Corien Verschuuren-Bemelmans, Maartje Boon, Johnny Samijn, Karin Diderich, Ingrid van de Laar,[...]. Neurology 2012
63
23

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Samuel F Berkovic, Sarah E Heron, Lucio Giordano, Carla Marini, Renzo Guerrini, Robert E Kaplan, Antonio Gambardella, Ortrud K Steinlein, Bronwyn E Grinton, Joanne T Dean,[...]. Ann Neurol 2004
181
14

Refinement of the chromosome 16 locus for benign familial infantile convulsions.
P M C Callenbach, E H van den Boogerd, R F M de Coo, R ten Houten, J C Oosterwijk, G Hageman, R R Frants, O F Brouwer, A M J M van den Maagdenberg. Clin Genet 2005
22
63

A human protein-protein interaction network: a resource for annotating the proteome.
Ulrich Stelzl, Uwe Worm, Maciej Lalowski, Christian Haenig, Felix H Brembeck, Heike Goehler, Martin Stroedicke, Martina Zenkner, Anke Schoenherr, Susanne Koeppen,[...]. Cell 2005
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
63
22

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients.
M K Houser, V L Soland, K P Bhatia, N P Quinn, C D Marsden. J Neurol 1999
83
15

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Yvonne G Weber, Andrea Berger, Nerses Bebek, Sabine Maier, Skevos Karafyllakes, Nancy Meyer, Yukio Fukuyama, Anne Halbach, Christiane Hikel, Gerhard Kurlemann,[...]. Epilepsia 2004
34
38


Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
Russell C Dale, Alice Gardiner, Jayne Antony, Henry Houlden. Dev Med Child Neurol 2012
73
16

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
784
11

Benign familial infantile seizures.
Federico Vigevano. Brain Dev 2005
38
28


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.