A citation-based method for searching scientific literature

Ganna Balagura, Antonella Riva, Francesca Marchese, Michele Iacomino, Francesca Madia, Thea Giacomini, Maria Margherita Mancardi, Elisabetta Amadori, Maria Stella Vari, Vincenzo Salpietro, Angelo Russo, Tullio Messana, Aglaia Vignoli, Valentina Chiesa, Lucio Giordano, Patrizia Accorsi, Lorella Caffi, Alessandro Orsini, Alice Bonuccelli, Margherita Santucci, Marilena Vecchi, Francesca Vanadia, Giuseppe Milito, Carlo Fusco, Giovanni Cricchiutti, Marilisa Carpentieri, Lucia Margari, Alberto Spalice, Francesca Beccaria, Fabio Benfenati, Federico Zara, Pasquale Striano. Eur J Paediatr Neurol 2020
Times Cited: 7







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



Times Cited
  Times     Co-cited
Similarity


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
60
71

The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
149
71

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
57

PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
72
42

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
42

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
42

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
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
312
42

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
42

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
42
42

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
42

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
42

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
28

PRRT2-related phenotypes in patients with a 16p11.2 deletion.
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,[...]. Eur J Med Genet 2019
10
28

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
28

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali,[...]. Nature 2011
617
28


Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
Xiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu,[...]. Neurol Genet 2016
22
28

Benefit of carbamazepine in a patient with hemiplegic migraine associated with PRRT2 mutation.
Russell C Dale, Alice Gardiner, Joceline A Branson, Henry Houlden. Dev Med Child Neurol 2014
15
28

Disorders of synaptic vesicle fusion machinery.
Holly Melland, Elysa M Carr, Sarah L Gordon. J Neurochem 2021
14
28

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
28

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
252
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
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
28

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
Flavia Valtorta, Fabio Benfenati, Federico Zara, Jacopo Meldolesi. Trends Neurosci 2016
48
28

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.
Rosa Guerrero-López, Laura Ortega-Moreno, Beatriz G Giráldez, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Manuel Nieto-Barrera, Eva Gutiérrez-Delicado, Pilar Gómez-Garre, Antonio Martínez-Bermejo, Juan J García-Peñas,[...]. Epilepsy Res 2014
12
28

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
Y P Chen, W Song, J Yang, Z-Z Zheng, R Huang, K Chen, B Zhao, X P Chen, J-M Burgunder, H-F Shang. Eur J Neurol 2014
16
28

PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Meng-Han Tsai, Fang-Shin Nian, Mei-Hsin Hsu, Wei-Szu Liu, Yo-Tsen Liu, Chen Liu, Po-Hsi Lin, Daw-Yang Hwang, Yao-Chung Chuang, Jin-Wu Tsai. Epilepsia 2019
8
28

Infantile Spasms Associated With a Pathogenic PRRT2 Variant.
Saba Jafarpour, Jay Desai. Pediatr Neurol 2021
2
100

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
28

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
109
28


Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse,[...]. Brain 2018
44
28

SNAREopathies: Diversity in Mechanisms and Symptoms.
Matthijs Verhage, Jakob B Sørensen. Neuron 2020
18
28

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura,[...]. Nat Genet 2008
364
28

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Debra Abramov, Noah Guy Lewis Guiberson, Jacqueline Burré. J Neurochem 2021
23
28

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
Hanna C A Lammertse, Annemiek A van Berkel, Michele Iacomino, Ruud F Toonen, Pasquale Striano, Antonio Gambardella, Matthijs Verhage, Federico Zara. Brain 2020
23
28

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
149
28

Synaptic assembly of the brain in the absence of neurotransmitter secretion.
M Verhage, A S Maia, J J Plomp, A B Brussaard, J H Heeroma, H Vermeer, R F Toonen, R E Hammer, T K van den Berg, M Missler,[...]. Science 2000
920
28

Episodic movement disorders as channelopathies.
K P Bhatia, R C Griggs, L J Ptácek. Mov Disord 2000
11
14

The role of cerebellum in patients with late onset cervical/segmental dystonia?--evidence from the clinic.
A Batla, M C Sánchez, R Erro, C Ganos, M Stamelou, B Balint, F Brugger, E Antelmi, K P Bhatia. Parkinsonism Relat Disord 2015
39
14

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
14

Severe Choreo-Ballism Episodes Due to PRRT2 Gene Mutations-A Vignette.
Sanjay Pandey, Anjali Chouksey, Sonali Bhattad. Mov Disord Clin Pract 2020
1
100

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
14


The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara,[...]. Neurobiol Dis 2017
42
14

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.
Kang Wang, Xiaoyu Zhao, Yue Du, Fangping He, Guoping Peng, Benyan Luo. Brain Dev 2013
21
14

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
14

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
112
14

Proline-rich transmembrane protein 2 (PRRT2) regulates the actin cytoskeleton during synaptogenesis.
Elisa Savino, Romina Inès Cervigni, Miriana Povolo, Alessandra Stefanetti, Daniele Ferrante, Pierluigi Valente, Anna Corradi, Fabio Benfenati, Fabrizia Claudia Guarnieri, Flavia Valtorta. Cell Death Dis 2020
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.