Xiao-Jun Huang, Tian Wang, Jun-Ling Wang, Xiao-Li Liu, Xiang-Qian Che, Jin Li, Xiao Mao, Mei Zhang, Guang-Hui Bi, Li Wu, Yu Zhang, Jing-Yi Wang, Jun-Yi Shen, Bei-Sha Tang, Li Cao, Sheng-Di Chen. Neurology 2015
Times Cited: 43
Times Cited: 43
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
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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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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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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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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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Paroxysmal dyskinesias: clinical features and classification.
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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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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
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PRRT2 mutations and paroxysmal disorders.
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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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PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.
Hong-Fu Li, Wan-Jin Chen, Wang Ni, Kai-Yan Wang, Gong-Lu Liu, Ning Wang, Zhi-Qi Xiong, Jianfeng Xu, Zhi-Ying Wu. Neurology 2013
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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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Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang,[...]. Mov Disord 2018
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Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
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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
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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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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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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
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Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
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Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.
Cheng-Yuan Mao, Chang-He Shi, Bo Song, Jun Wu, Yan Ji, Jie Qin, Yu-Sheng Li, Jing-Jing Wang, Dan-Dan Shang, Shi-Lei Sun,[...]. J Neurol Sci 2014
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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18
Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
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Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied.
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Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging.
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Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu, Wei Liao. Mov Disord 2017
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
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Unravelling of the paroxysmal dyskinesias.
Roberto Erro, Kailash P Bhatia. J Neurol Neurosurg Psychiatry 2019
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Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: a resting-state functional magnetic resonance imaging study.
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Psychogenic paroxysmal movement disorders--clinical features and diagnostic clues.
Christos Ganos, Maria Aguirregomozcorta, Amit Batla, Maria Stamelou, Petra Schwingenschuh, Alexander Münchau, Mark J Edwards, Kailash P Bhatia. Parkinsonism Relat Disord 2014
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Thalamic involvement in paroxysmal kinesigenic dyskinesia: a combined structural and diffusion tensor MRI analysis.
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Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.
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PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.
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Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.
Hong-Xia Wang, Hong-Fu Li, Gong-Lu Liu, Xiao-Dan Wen, Zhi-Ying Wu. Chin Med J (Engl) 2016
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Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
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Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
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Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.
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Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus.
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Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
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Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia.
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Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis.
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Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
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PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong. PLoS One 2012
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PRRT2 mutations are the major cause of benign familial infantile seizures.
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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
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Oxcarbazepine versus carbamazepine in the treatment of paroxysmal kinesigenic dyskinesia.
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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.