Zheng-Wen He, Jian Qu, Ying Zhang, Chen-Xue Mao, Zhi-Bin Wang, Xiao-Yuan Mao, Zhi-Yong Deng, Bo-Ting Zhou, Ji-Ye Yin, Hong-Yu Long, Bo Xiao, Yu Zhang, Hong-Hao Zhou, Zhao-Qian Liu. Int J Mol Sci 2014
Times Cited: 12
Times Cited: 12
Times Cited
Times Co-cited
Similarity
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
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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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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
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Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
Wen Zheng, Jie Zhang, Xiong Deng, Jingjing Xiao, Lamei Yuan, Yan Yang, Liping Guan, Zhi Song, Zhijian Yang, Hao Deng. Mol Neurobiol 2016
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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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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
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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
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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura,[...]. J Hum Genet 2012
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
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Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Atsushi Ishii, Sawa Yasumoto, Yukiko Ihara, Takahito Inoue, Takako Fujita, Noriko Nakamura, Masaharu Ohfu, Yushiro Yamashita, Hideo Takatsuka, Toshiaki Taga,[...]. Brain Dev 2013
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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini,[...]. Neurology 2012
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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
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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
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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
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The evolving spectrum of PRRT2-associated paroxysmal diseases.
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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
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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
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
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Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.
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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
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Benign complex partial epilepsies in infancy.
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Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
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Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
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PRRT2 mutation in Japanese children with benign infantile epilepsy.
Akihisa Okumura, Keiko Shimojima, Tetsuo Kubota, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tohru Okanishi, Hideo Enoki, Tatsuya Fukasawa, Takuya Tanabe,[...]. Brain Dev 2013
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PRRT2 mutations cause hemiplegic migraine.
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PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
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PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.
Ming Li, Fenghe Niu, Xilin Zhu, Xiaopan Wu, Ning Shen, Xiaozhong Peng, Ying Liu. Int J Mol Sci 2015
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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
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PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.
Claudia Castiglioni, Isabel López, Florence Riant, Enrico Bertini, Alessandra Terracciano. Eur J Paediatr Neurol 2013
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PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Felicitas Becker, Julian Schubert, Pasquale Striano, Anna-Kaisa Anttonen, Elina Liukkonen, Eija Gaily, Christian Gerloff, Stephan Müller, Nicole Heußinger, Christoph Kellinghaus,[...]. J Neurol 2013
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Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
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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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Child Neurology: PRRT2-associated movement disorders and differential diagnoses.
Darius Ebrahimi-Fakhari, Keun-Sun Kang, Urania Kotzaeridou, Juergen Kohlhase, Christine Klein, Birgit E Assmann. Neurology 2014
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High-resolution proteomics unravel architecture and molecular diversity of native AMPA receptor complexes.
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Paroxysmal dyskinesias: clinical features and classification.
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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
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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
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PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.
Hong-Fu Li, Wang Ni, Zhi-Qi Xiong, Jianfeng Xu, Zhi-Ying Wu. CNS Neurosci Ther 2013
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Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
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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
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Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.
Angelo Labate, Patrizia Tarantino, Grazia Palamara, Monica Gagliardi, Francesca Cavalcanti, Edoardo Ferlazzo, Miriam Sturniolo, Gemma Incorpora, Grazia Annesi, Umberto Aguglia,[...]. Epilepsy Res 2013
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Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
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Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
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Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.
Jinyoung Youn, Ji Sun Kim, Munhyang Lee, Jeehun Lee, Hakjae Roh, Chang-Seok Ki, Jin Whan Choa. J Clin Neurol 2014
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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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Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
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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.