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Select item 102355691.

PRRT2‐positive self‐limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers

Jiwon Lee, Young Ok Kim, Byung Chan Lim, Jeehun Lee

Epilepsia Open. 2023 Jun; 8(2): 436–443. Published online 2023 Feb 20. doi: 10.1002/epi4.12708

PMCID:: PMC10235569

Abstract Article PDF–660K

Select item 101649112.

The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na⁺ channels

Francesca Franchi, Antonella Marte, Beatrice Corradi, Bruno Sterlini, Giulio Alberini, Alessandra Romei, Antonio De Fusco, Alexander Vogel, Luca Maragliano, Pietro Baldelli, Anna Corradi, Pierluigi Valente, Fabio Benfenati

J Biol Chem. 2023 May; 299(5): 104632. Published online 2023 Mar 22. doi: 10.1016/j.jbc.2023.104632

PMCID:: PMC10164911

Abstract Article PDF–2.5M

Select item 81839163.

Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

Zhaoyu Wang, Huijie Dong, Xiaofei Ji, Siyu Luan, Hua Cao

J Clin Lab Anal. 2021 Jun; 35(6): e23772. Published online 2021 Apr 7. doi: 10.1002/jcla.23772

PMCID:: PMC8183916

Abstract Article PDF–422K

Select item 80056814.

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 May; 21(5): 504. Published online 2021 Mar 18. doi: 10.3892/etm.2021.9935

PMCID:: PMC8005681

Abstract Article PDF–1.0M

Select item 75542035.

Protein and mRNA expression of protein kinase C (PKC) in the postmortem brain of bipolar and schizophrenic subjects

Ghanshyam N. Pandey, Hooriyah S. Rizavi, Xinguo Ren

J Psychiatr Res. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: J Psychiatr Res. 2020 Nov; 130: 362–371. Published online 2020 Aug 9. doi: 10.1016/j.jpsychires.2020.07.019

PMCID:: PMC7554203

Abstract Article PDF–1.1M

Select item 74698586.

Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia

Lei Li, Du Lei, Xueling Suo, Xiuli Li, Chen Yang, Tianhua Yang, Jiechuan Ren, Guangxiang Chen, Dong Zhou, Graham J. Kemp, Qiyong Gong

Hum Brain Mapp. 2020 Oct 1; 41(14): 3855–3866. Published online 2020 Jun 27. doi: 10.1002/hbm.25091

PMCID:: PMC7469858

Abstract Article PDF–1.9M

Select item 73830307.

Different experiences of two PRRT2-associated self-limited familial infantile epilepsy

Qianlei Zhao, Zhenwei Liu, Ying Hu, Shiyu Fang, Feixia Zheng, Xiucui Li, Feng Li, Zhongdong Lin

Acta Neurol Belg. 2020; 120(4): 1025–1028. Published online 2020 Apr 3. doi: 10.1007/s13760-020-01348-9

PMCID:: PMC7383030

Abstract Article PDF–607K

Select item 72514268.

A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion

Salem Baldi, Jin-Ling Zhu, Qing-Yun Hu, Ju-Li Wang, Jin-Bo Zhang, Shu-Hong Zhang

Behav Neurol. 2020; 2020: 2097059. Published online 2020 May 18. doi: 10.1155/2020/2097059

PMCID:: PMC7251426

Abstract Article PDF–810K

Select item 72182449.

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, Xia Li, Fang Luo, Junli Yang, Baomin Li

Brain Behav. 2020 May; 10(5): e01597. Published online 2020 Mar 31. doi: 10.1002/brb3.1597

PMCID:: PMC7218244

Abstract Article PDF–1.7M

Select item 693081510.

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 Jan; 26(1): 39–46. Published online 2019 May 23. doi: 10.1111/cns.13147

PMCID:: PMC6930815

Abstract Article PDF–1.4M

Select item 649356111.

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 Jan; 19(1): 61–65. Published online 2012 Nov 24. doi: 10.1111/cns.12034

PMCID:: PMC6493561

Abstract Article PDF–121K

Select item 623623312.

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

Wen Li, Yifan Wang, Bin Li, Bin Tang, Hui Sun, Jinxing Lai, Na He, Bingmei Li, Heng Meng, Weiping Liao, Xiaorong Liu

Brain Behav. 2018 Nov; 8(11): e01134. Published online 2018 Oct 11. doi: 10.1002/brb3.1134

PMCID:: PMC6236233

Abstract Article PDF–754K

Select item 579245013.

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 Jan 16; 22(3): 820–831. Published online 2018 Jan 29. doi: 10.1016/j.celrep.2017.12.056

PMCID:: PMC5792450

Abstract Article PDF–3.4M

Select item 528820914.

Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells

Chun Li, Yu Ma, Kunshan Zhang, Junjie Gu, Fan Tang, Shengdi Chen, Li Cao, Siguang Li, Ying Jin

Oncotarget. 2016 Aug 16; 7(33): 53611–53627. Published online 2016 Jul 18. doi: 10.18632/oncotarget.10680

PMCID:: PMC5288209

Abstract Article PDF–9.7M

Select item 477639215.

Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

Axel Weber, Jonas Kreth, Ulrich Müller

BMC Med Genet. 2016; 17: 16. Published online 2016 Mar 3. doi: 10.1186/s12881-016-0281-7

PMCID:: PMC4776392

Abstract Article PDF–501K

Select item 446358216.

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 May; 16(5): 9134–9151. Published online 2015 Apr 23. doi: 10.3390/ijms16059134

PMCID:: PMC4463582

Abstract Article PDF–4.3M

Select item 428477417.

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

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 Dec; 15(12): 23408–23417. Published online 2014 Dec 16. doi: 10.3390/ijms151223408

PMCID:: PMC4284774

Abstract Article PDF–2.3M

Select item 419329118.

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Una-Marie Sheerin, Maria Stamelou, Gavin Charlesworth, Tamara Shiner, Sian Spacey, Enza-Maria Valente, Nicholas W. Wood, Kailash P. Bhatia

J Neurol. Author manuscript; available in PMC 2014 Oct 10.

Published in final edited form as: J Neurol. 2013 Feb; 260(2): 656–660. Published online 2012 Nov 24. doi: 10.1007/s00415-012-6747-4

PMCID:: PMC4193291

Article PDF–144K

Select item 410772919.

Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

Zhisong Ji, Quanxi Su, Lingling Hu, Qi Yang, Cuixian Liu, Jun Xiong, Fu Xiong

BMC Neurol. 2014; 14: 146. Published online 2014 Jul 16. doi: 10.1186/1471-2377-14-146

PMCID:: PMC4107729

Abstract Article PDF–1.4M

Select item 394042220.

Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

Guillaume Huguet, Caroline Nava, Nathalie Lemière, Etienne Patin, Guillaume Laval, Elodie Ey, Alexis Brice, Marion Leboyer, Pierre Szepetowski, Christopher Gillberg, Christel Depienne, Richard Delorme, Thomas Bourgeron

PLoS One. 2014; 9(3): e88600. Published online 2014 Mar 3. doi: 10.1371/journal.pone.0088600