A citation-based method for searching scientific literature

Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Eva H Brilstra, Trijnie Dijkhuizen, Yvonne J Vos, Anne-Marie F van der Kevie-Kersemaekers, Jeroen Knijnenburg, Nicole de Leeuw, Rick van Minkelen, Claudia A L Ruivenkamp, Alexander P A Stegmann, Oebele F Brouwer, Conny M A van Ravenswaaij-Arts. Eur J Med Genet 2019
Times Cited: 7







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



Times Cited
  Times     Co-cited
Similarity


The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
125
71

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
41
57

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
171
42

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
Axel Weber, Angelika Köhler, Andreas Hahn, Bernd Neubauer, Ulrich Müller. Neurogenetics 2013
21
42

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
53
42

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
292
42

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
43
42

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
195
42

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
42

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
234
42

PRRT2 mutations: exploring the phenotypical boundaries.
Tania Djémié, Sarah Weckhuysen, Philip Holmgren, Katia Hardies, Tine Van Dyck, Rik Hendrickx, An-Sofie Schoonjans, Wim Van Paesschen, Anna C Jansen, Linda De Meirleir,[...]. J Neurol Neurosurg Psychiatry 2014
22
28

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
65
28

Benign familial infantile seizures.
Federico Vigevano. Brain Dev 2005
35
28

Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green,[...]. N Engl J Med 2008
28

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley,[...]. J Med Genet 2010
317
28

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
75
28

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Piero Pavone, Giovanni Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla. Ital J Pediatr 2019
4
50

Synaptopathies: diseases of the synaptome.
Seth G N Grant. Curr Opin Neurobiol 2012
149
28

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
168
28

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
68
28

PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
67
28

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
108
28

Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
Pierluigi Valente, Alessandra Romei, Manuela Fadda, Bruno Sterlini, Davide Lonardoni, Nicola Forte, Floriana Fruscione, Enrico Castroflorio, Caterina Michetti, Giorgia Giansante,[...]. Cereb Cortex 2019
15
28

PRRT2 mutations cause hemiplegic migraine.
Florence Riant, Emmanuel Roze, Cecile Barbance, Aurélie Méneret, Lucie Guyant-Maréchal, Christian Lucas, Pascal Sabouraud, Agnes Trébuchon, Christel Depienne, Elisabeth Tournier-Lasserve. Neurology 2012
76
28

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura,[...]. Cell Rep 2016
71
28

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
Ilenia Maini, Alessandro Iodice, Carlotta Spagnoli, Grazia Gabriella Salerno, Gianna Bertani, Daniele Frattini, Carlo Fusco. Eur J Paediatr Neurol 2016
13
28

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S Møller,[...]. Biomedicines 2020
5
40

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi,[...]. Brain 2018
44
28

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Ganna Balagura, Antonella Riva, Francesca Marchese, Michele Iacomino, Francesca Madia, Thea Giacomini, Maria Margherita Mancardi, Elisabetta Amadori, Maria Stella Vari, Vincenzo Salpietro,[...]. Eur J Paediatr Neurol 2020
4
50

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
Guo-He Tan, Yuan-Yuan Liu, Lu Wang, Kui Li, Ze-Qiang Zhang, Hong-Fu Li, Zhong-Fei Yang, Yang Li, Dan Li, Ming-Yue Wu,[...]. Cell Res 2018
34
28

Different experiences of two PRRT2-associated self-limited familial infantile epilepsy.
Qianlei Zhao, Zhenwei Liu, Ying Hu, Shiyu Fang, Feixia Zheng, Xiucui Li, Feng Li, Zhongdong Lin. Acta Neurol Belg 2020
4
50

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
Jo M Wilmshurst, William D Gaillard, Kollencheri Puthenveettil Vinayan, Tammy N Tsuchida, Perrine Plouin, Patrick Van Bogaert, Jaime Carrizosa, Maurizio Elia, Dana Craiu, Nebojsa J Jovic,[...]. Epilepsia 2015
153
14

Treatment of infants with epilepsy: Common practices around the world.
Jo M Wilmshurst, Richard Burman, William D Gaillard, J Helen Cross. Epilepsia 2015
20
14

Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.
Russell C Dale, Padraic Grattan-Smith, Victor S C Fung, Greg B Peters. Neurology 2011
25
14

Pharmacokinetics and Pharmacogenetics of Carbamazepine in Children.
Natasa Djordjevic, Slobodan M Jankovic, Jasmina R Milovanovic. Eur J Drug Metab Pharmacokinet 2017
12
14

Antiepileptic drug withdrawal in childhood epilepsy: what are the risk factors associated with seizure relapse?
A Verrotti, C D'Egidio, S Agostinelli, P Parisi, A Spalice, F Chiarelli, G Coppola. Eur J Paediatr Neurol 2012
23
14

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi,[...]. Epilepsia 2013
73
14

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Marina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, Carla Marini, Davide Mei, Francesca Darra, Patrizia Accorsi, Domenica Battaglia, Lorella Caffi, Maria P Canevini,[...]. Epilepsia 2018
14
14

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Myriam Chaabouni, Ichraf Kraoua, Ilhem Ben Youssef-Turki. Neuropediatrics 2018
3
33

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
X-R Liu, M Wu, N He, H Meng, L Wen, J-L Wang, M-P Zhang, W-B Li, X Mao, J-M Qin,[...]. Genes Brain Behav 2013
33
14

Distinct neurological disorders with ATP1A3 mutations.
Erin L Heinzen, Alexis Arzimanoglou, Allison Brashear, Steven J Clapcote, Fiorella Gurrieri, David B Goldstein, Sigurður H Jóhannesson, Mohamad A Mikati, Brian Neville, Sophie Nicole,[...]. Lancet Neurol 2014
142
14



A novel SCN2A mutation in family with benign familial infantile seizures.
Pasquale Striano, Laura Bordo, Maria Luisa Lispi, Nicola Specchio, Carlo Minetti, Federico Vigevano, Federico Zara. Epilepsia 2006
60
14

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
14

PRRT2 is mutated in familial and non-familial benign infantile seizures.
Nicola Specchio, Alessandra Terracciano, Marina Trivisano, Simona Cappelletti, Dianela Claps, Lorena Travaglini, Raffaella Cusmai, Carlo Efisio Marras, Federico Zara, Lucia Fusco,[...]. Eur J Paediatr Neurol 2013
15
14

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly, Ingrid E Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge,[...]. Nat Genet 2008
255
14

Benign infantile familial convulsions.
F Vigevano, L Fusco, M Di Capua, S Ricci, R Sebastianelli, P Lucchini. Eur J Pediatr 1992
179
14

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.
Noriko Sangu, Keiko Shimojima, Okumura Akihisa, Tomohiro Ando, Toshiyuki Yamamoto. Epilepsy Res 2015
4
25



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.