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: 11







List of co-cited articles
47 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
151
72

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
25
45

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
313
45

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
36

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
50
36

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
61
36

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
254
36

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
28
27

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
181
27

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
27

Benign familial infantile seizures.
Federico Vigevano. Brain Dev 2005
38
27

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
332
27

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
48
27

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
204
27

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
178
27

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
60
27

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
84
27

16p11.2 Copy Number Variations and Neurodevelopmental Disorders.
Benjamin Rein, Zhen Yan. Trends Neurosci 2020
20
27

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
193
18

Pharmacokinetics and Pharmacogenetics of Carbamazepine in Children.
Natasa Djordjevic, Slobodan M Jankovic, Jasmina R Milovanovic. Eur J Drug Metab Pharmacokinet 2017
15
18

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
26
18


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
68
18

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
18

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
R G Walters, S Jacquemont, A Valsesia, A J de Smith, D Martinet, J Andersson, M Falchi, F Chen, J Andrieux, S Lobbens,[...]. Nature 2010
330
18

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.
Robert S Fisher, J Helen Cross, Jacqueline A French, Norimichi Higurashi, Edouard Hirsch, Floor E Jansen, Lieven Lagae, Solomon L Moshé, Jukka Peltola, Eliane Roulet Perez,[...]. Epilepsia 2017
18

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
18

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
7
28

Synaptopathies: diseases of the synaptome.
Seth G N Grant. Curr Opin Neurobiol 2012
160
18

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
18

PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
72
18

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
117
18

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
20
18

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
79
18

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
18

Lamotrigine monotherapy for paroxysmal kinesigenic dyskinesia in children.
Feng Li, Zhong-Dong Lin, Ying Hu, Wei Li, Chao-Chao Xue, Neha D Poonit. Seizure 2016
14
18

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
10
20

Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
Dylan J Calame, Jianfeng Xiao, Mohammad Moshahid Khan, T J Hollingsworth, Yi Xue, Abigail L Person, Mark S LeDoux. Neuroscience 2020
11
18

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
7
28

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
47
18

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
7
28

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
Akihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, Shingo Numoto, Shino Shimada, Atsushi Ishii, Iori Ohmori, Satoru Takahashi, Tomonari Awaya, Tetsuo Kubota,[...]. Seizure 2019
13
18


Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.
Li Yang, Cuiping You, Shiyan Qiu, Xiaofan Yang, Yufen Li, Feng Liu, Dongqing Zhang, Yue Niu, Liyun Xu, Na Xu,[...]. Brain Behav 2020
9
22

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
Russell C Dale, Padraic Grattan-Smith, Michelle Nicholson, Greg B Peters. Dev Med Child Neurol 2012
59
18


16p11.2 deletion syndrome.
Wendy K Chung, Timothy Pl Roberts, Elliott H Sherr, LeeAnne Green Snyder, John E Spiro. Curr Opin Genet Dev 2021
8
25

Treatment of infants with epilepsy: Common practices around the world.
Jo M Wilmshurst, Richard Burman, William D Gaillard, J Helen Cross. Epilepsia 2015
21
9

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
27
9

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
79
9


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.