A citation-based method for searching scientific literature

Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
Times Cited: 128



Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D O Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K Bruno, Ewout R Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R Lynch, Shehla Mohammed, Ulrich Müller, Mark P Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J Ptáček. Cell Rep 2012
Times Cited: 170




List of shared articles



Times cited

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
3


An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability.
Bruno Sterlini, Alessandra Romei, Chiara Parodi, Davide Aprile, Michele Oneto, Anita Aperia, Pierluigi Valente, Flavia Valtorta, Anna Fassio, Pietro Baldelli,[...]. Cell Death Dis 2021
1

The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology.
Annamaria Landolfi, Paolo Barone, Roberto Erro. Front Neurol 2021
0

Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.
Jialinzi He, Haiyun Tang, Chaorong Liu, Langzi Tan, Wenbiao Xiao, Bo Xiao, Hongyu Long, Lili Long. Exp Ther Med 2021
0

Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.
Fay Aj, McMahon T, Im C, Bair-Marshall C, Niesner Kj, Li H, Nelson A, Voglmaier Sm, Fu Y-H, Ptáček Lj. Neurogenetics 2021
0

PRRT2 modulates presynaptic Ca2+ influx by interacting with P/Q-type channels.
Daniele Ferrante, Bruno Sterlini, Cosimo Prestigio, Antonella Marte, Anna Corradi, Franco Onofri, Giorgio Tortarolo, Giuseppe Vicidomini, Andrea Petretto, Jessica Muià,[...]. Cell Rep 2021
0

Paroxysmal Movement Disorders.
Susan Harvey, Mary D King, Kathleen M Gorman. Front Neurol 2021
0

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Shao-Yun Zhao, Li-Xi Li, Yu-Lan Chen, Yi-Jun Chen, Gong-Lu Liu, Hai-Lin Dong, Dian-Fu Chen, Hong-Fu Li, Zhi-Ying Wu. CNS Neurosci Ther 2020
4

PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia.
Yongcheng Pan, Qiong Liu, Jennifer Zhang, Yang Yang, Yun Tian, Junsheng Zeng, Peng Yin, Lin Mei, Wen-Cheng Xiong, Xiao-Jiang Li,[...]. Biochem Biophys Res Commun 2020
3


Migraine pathways and the identification of novel therapeutic targets.
Innocenzo Rainero, Fausto Roveta, Alessandro Vacca, Cecilia Noviello, Elisa Rubino. Expert Opin Ther Targets 2020
2

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
5

Treatment of Paroxysmal Dyskinesia.
Anna Latorre, Kailash P Bhatia. Neurol Clin 2020
8

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.
Hua Xie, Fang Liu, Yu Zhang, Qian Chen, Shaofang Shangguan, Zhijie Gao, Nan Wu, Jian Wang, Xiaodai Cui, Lin Wang,[...]. Mol Genet Genomic Med 2020
0

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
5

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
16

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
7


[An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures].
Yasuto Tanabe, Takumi Taira, Akihiro Shimotake, Takeshi Inoue, Tomonari Awaya, Takeo Kato, Akira Kuzuya, Akio Ikeda, Ryosuke Takahashi. Rinsho Shinkeigaku 2019
2

Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.
Louise Robertson, Travis Featherby, Stuart Howell, James Hughes, Paul Thomas. Genes Brain Behav 2019
2

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
6

Advances in genetics of migraine.
Heidi G Sutherland, Cassie L Albury, Lyn R Griffiths. J Headache Pain 2019
38

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
37

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.
Jacqueline G Lu, Juliet Bishop, Sarah Cheyette, Igor B Zhulin, Su Guo, Nara Sobreira, Steven E Brenner. Cold Spring Harb Mol Case Stud 2018
4

Genetics of human epilepsies: Continuing progress.
Pierre Szepetowski. Presse Med 2018
4


PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Jeff Coleman, Ouardane Jouannot, Sathish K Ramakrishnan, Maria N Zanetti, Jing Wang, Vincenzo Salpietro, Henry Houlden, James E Rothman, Shyam S Krishnakumar. Cell Rep 2018
35

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
48


The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics.
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan. Curr Opin Neurol 2018
12

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
Hongying Ma, Shenglei Feng, Xuejun Deng, Li Wang, Sheng Zeng, Cheng Wang, Xixiang Ma, Hao Sun, Rui Chen, Shiyue Du,[...]. Epilepsia 2018
6