Dylan J Calame, Jianfeng Xiao, Mohammad Moshahid Khan, T J Hollingsworth, Yi Xue, Abigail L Person, Mark S LeDoux. Neuroscience 2020
Times Cited: 11
Times Cited: 11
Times Cited
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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
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
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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
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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
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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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
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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
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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
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Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
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Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
Hsien-yang Lee, Junko Nakayama, Ying Xu, Xueliang Fan, Maha Karouani, Yiguo Shen, Emmanuel N Pothos, Ellen J Hess, Ying-Hui Fu, Robert H Edwards,[...]. J Clin Invest 2012
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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
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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
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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
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The cerebellum communicates with the basal ganglia.
Eiji Hoshi, Léon Tremblay, Jean Féger, Peter L Carras, Peter L Strick. Nat Neurosci 2005
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
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Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus.
Riaan van Coller, Pieter Slabbert, Janardan Vaidyanathan, Clara Schutte. Stereotact Funct Neurosurg 2014
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Zonisamide Therapy for Patients With Paroxysmal Kinesigenic Dyskinesia.
Ryuki Matsuura, Shin-Ichiro Hamano, Erika Hiwatari, Satoru Ikemoto, Yuko Hirata, Reiko Koichihara, Kenjiro Kikuchi. Pediatr Neurol 2020
Ryuki Matsuura, Shin-Ichiro Hamano, Erika Hiwatari, Satoru Ikemoto, Yuko Hirata, Reiko Koichihara, Kenjiro Kikuchi. Pediatr Neurol 2020
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Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background.
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Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice.
Rajiv Devanagondi, Kiyoshi Egami, Mark S LeDoux, Ellen J Hess, H A Jinnah. Neurobiol Dis 2007
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PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Jennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, Jennifer Silhavy, Joseph G Gleeson. Neurology 2017
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The neural substrates of rapid-onset Dystonia-Parkinsonism.
D Paola Calderon, Rachel Fremont, Franca Kraenzlin, Kamran Khodakhah. Nat Neurosci 2011
D Paola Calderon, Rachel Fremont, Franca Kraenzlin, Kamran Khodakhah. Nat Neurosci 2011
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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
Russell C Dale, Anna Melchers, Victor S C Fung, Padraic Grattan-Smith, Henry Houlden, John Earl. Dev Med Child Neurol 2010
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Aberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.
Rachel Fremont, Ambika Tewari, Kamran Khodakhah. Neurobiol Dis 2015
Rachel Fremont, Ambika Tewari, Kamran Khodakhah. Neurobiol Dis 2015
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The basal ganglia and the cerebellum: nodes in an integrated network.
Andreea C Bostan, Peter L Strick. Nat Rev Neurosci 2018
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Abnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism.
Rachel Fremont, D Paola Calderon, Sara Maleki, Kamran Khodakhah. J Neurosci 2014
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Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.
Ana Luísa de Almeida Marcelino, Tina Mainka, Patricia Krause, Werner Poewe, Christos Ganos, Andrea A Kühn. J Neurol 2020
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Unravelling of the paroxysmal dyskinesias.
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
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Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
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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
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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
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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
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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
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
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PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.
Carlo Nobile, Pasquale Striano. Prog Brain Res 2014
Carlo Nobile, Pasquale Striano. Prog Brain Res 2014
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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
Russell C Dale, Alice Gardiner, Jayne Antony, Henry Houlden. Dev Med Child Neurol 2012
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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, Wo-Tu Tian, Fei-Xia Zhan, Ze-Yu Zhu, Xiao-Meng Yin, Qing Liu, Kai-Li Yin, Xiao-Rong Liu,[...]. Mov Disord 2020
Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, Wo-Tu Tian, Fei-Xia Zhan, Ze-Yu Zhu, Xiao-Meng Yin, Qing Liu, Kai-Li Yin, Xiao-Rong Liu,[...]. Mov Disord 2020
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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
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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
Angelo Labate, Patrizia Tarantino, Maurizio Viri, Laura Mumoli, Monica Gagliardi, Antonino Romeo, Federico Zara, Grazia Annesi, Antonio Gambardella. Epilepsia 2012
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PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
Yo-Tsen Liu, Fang-Shin Nian, Wan-Ju Chou, Chin-Yin Tai, Shang-Yeong Kwan, Chien Chen, Pei-Wen Kuo, Po-Hsi Lin, Chin-Yi Chen, Chia-Wei Huang,[...]. Oncotarget 2016
Yo-Tsen Liu, Fang-Shin Nian, Wan-Ju Chou, Chin-Yin Tai, Shang-Yeong Kwan, Chien Chen, Pei-Wen Kuo, Po-Hsi Lin, Chin-Yi Chen, Chia-Wei Huang,[...]. Oncotarget 2016
18
Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia.
Francesca Binda, Pierluigi Valente, Antonella Marte, Pietro Baldelli, Fabio Benfenati. Neurobiol Dis 2021
Francesca Binda, Pierluigi Valente, Antonella Marte, Pietro Baldelli, Fabio Benfenati. Neurobiol Dis 2021
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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
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Regulation of striatal cells and goal-directed behavior by cerebellar outputs.
Le Xiao, Caroline Bornmann, Laetitia Hatstatt-Burklé, Peter Scheiffele. Nat Commun 2018
Le Xiao, Caroline Bornmann, Laetitia Hatstatt-Burklé, Peter Scheiffele. Nat Commun 2018
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Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia.
Asya Ekmen, Aurelie Meneret, Romain Valabregue, Benoit Beranger, Yulia Worbe, Jean-Charles Lamy, Sofien Mehdi, Anais Herve, Isaac Adanyeguh, Gizem Temiz,[...]. Neurology 2022
Asya Ekmen, Aurelie Meneret, Romain Valabregue, Benoit Beranger, Yulia Worbe, Jean-Charles Lamy, Sofien Mehdi, Anais Herve, Isaac Adanyeguh, Gizem Temiz,[...]. Neurology 2022
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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
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
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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
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Clinical Features and Treatment in the Spectrum of Paroxysmal Dyskinesias: An Observational Study in South-West Castilla y Leon, Spain.
Raquel Manso-Calderón. Neurol Res Int 2019
Raquel Manso-Calderón. Neurol Res Int 2019
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Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment.
Kuldeep Shetty, Asodu Sandeep Sarma, Meera Devan, Ashwin Dalal, Gopal Krishna Dash, Apuroopa Jannabhatla, Siddaramappa Jagadish Patil. J Mov Disord 2020
Kuldeep Shetty, Asodu Sandeep Sarma, Meera Devan, Ashwin Dalal, Gopal Krishna Dash, Apuroopa Jannabhatla, Siddaramappa Jagadish Patil. J Mov Disord 2020
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Mutations in GNAL cause primary torsion dystonia.
Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E Lang, Tsao-Wei Liang, Richard M Trosch, Sierra White,[...]. Nat Genet 2013
Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E Lang, Tsao-Wei Liang, Richard M Trosch, Sierra White,[...]. Nat Genet 2013
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.