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, Ji-Feng Guo, Hong Jiang, Lu Shen, Lan Zheng, Xiao Mao, Wei-Qian Yan, Ying Zhou, Yu-Ting Shi, San-Xi Ai, Mei-Zhi Dai, Peng Zhang, Kun Xia, Sheng-Di Chen, Bei-Sha Tang. Brain 2011
Times Cited: 201
Times Cited: 201
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
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
64
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
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
46
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
37
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
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
36
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
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
35
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
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
34
Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
M Demirkiran, J Jankovic. Ann Neurol 1995
22
Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
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,[...]. Neurology 2015
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,[...]. Neurology 2015
46
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
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura,[...]. Cell Rep 2016
23
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
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
18
PRRT2 mutations and paroxysmal disorders.
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze. Eur J Neurol 2013
23
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
28
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
Aurélie Méneret, David Grabli, Christel Depienne, Cécile Gaudebout, Fabienne Picard, Alexandra Dürr, Isabelle Lagroua, Delphine Bouteiller, Cyril Mignot, Diane Doummar,[...]. Neurology 2012
25
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini. Neurology 2012
Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini. Neurology 2012
22
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
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
18
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
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
17
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
21
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
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
36
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
Sarah E Heron, Leanne M Dibbens. J Med Genet 2013
26
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
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
16
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
Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama,[...]. Hum Mutat 2012
22
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
25
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
X-R Liu, M Wu, N He, H Meng, L Wen, J-L Wang, M-P Zhang, W-B Li, X Mao, J-M Qin,[...]. Genes Brain Behav 2013
X-R Liu, M Wu, N He, H Meng, L Wen, J-L Wang, M-P Zhang, W-B Li, X Mao, J-M Qin,[...]. Genes Brain Behav 2013
41
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
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
35
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
19
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
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
33
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
13
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied.
A Kertesz. Neurology 1967
A Kertesz. Neurology 1967
13
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
Florence Riant, Emmanuel Roze, Cecile Barbance, Aurélie Méneret, Lucie Guyant-Maréchal, Christian Lucas, Pascal Sabouraud, Agnes Trébuchon, Christel Depienne, Elisabeth Tournier-Lasserve. Neurology 2012
16
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney,[...]. Arch Neurol 2004
Shirley Rainier, Donald Thomas, Debra Tokarz, Lei Ming, Melanie Bui, Erin Plein, Xinping Zhao, Rosemary Lemons, Roger Albin, Colin Delaney,[...]. Arch Neurol 2004
13
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
Jingyun Li, Xilin Zhu, Xin Wang, Wei Sun, Bing Feng, Te Du, Bei Sun, Fenghe Niu, Hua Wei, Xiaopan Wu,[...]. J Med Genet 2012
17
Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.
Li Cao, Xiao-Jun Huang, Lan Zheng, Qin Xiao, Xi-Jin Wang, Sheng-Di Chen. Parkinsonism Relat Disord 2012
Li Cao, Xiao-Jun Huang, Lan Zheng, Qin Xiao, Xi-Jin Wang, Sheng-Di Chen. Parkinsonism Relat Disord 2012
29
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
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
13
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
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi,[...]. Brain 2018
22
A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
12
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
Felicitas Becker, Julian Schubert, Pasquale Striano, Anna-Kaisa Anttonen, Elina Liukkonen, Eija Gaily, Christian Gerloff, Stephan Müller, Nicole Heußinger, Christoph Kellinghaus,[...]. J Neurol 2013
26
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
Ming Li, Fenghe Niu, Xilin Zhu, Xiaopan Wu, Ning Shen, Xiaozhong Peng, Ying Liu. Int J Mol Sci 2015
25
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
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
54
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.
Alexander J A Groffen, Thom Klapwijk, Anne-Fleur van Rootselaar, Justus L Groen, Marina A J Tijssen. J Neurol 2013
Alexander J A Groffen, Thom Klapwijk, Anne-Fleur van Rootselaar, Justus L Groen, Marina A J Tijssen. J Neurol 2013
29
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
11
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
Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, Annick Massacrier, Manal Salmi, Marc Bataillard, Clotilde Boulay, Roberto Caraballo, Natalio Fejerman, Pierre Genton,[...]. Neurology 2012
16
Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
L C S Tan, K Methawasin, E W L Teng, A R J Ng, S H Seah, W L Au, J J Liu, J N Foo, Y Zhao, E K Tan. Eur J Neurol 2014
L C S Tan, K Methawasin, E W L Teng, A R J Ng, S H Seah, W L Au, J J Liu, J N Foo, Y Zhao, E K Tan. Eur J Neurol 2014
40
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
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
50
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
27
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H Ahn, Georg W J Auburger, Massimo Pandolfo, Hubert Kwiecinski, David A Grimes, Anthony E Lang, Jorgen E Nielsen,[...]. Hum Mol Genet 2004
Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H Ahn, Georg W J Auburger, Massimo Pandolfo, Hubert Kwiecinski, David A Grimes, Anthony E Lang, Jorgen E Nielsen,[...]. Hum Mol Genet 2004
10
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
Axel Weber, Angelika Köhler, Andreas Hahn, Bernd Neubauer, Ulrich Müller. Neurogenetics 2013
43
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
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
16
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
J C Jen, J Wan, T P Palos, B D Howard, R W Baloh. Neurology 2005
10
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.