Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lu Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B (2021) Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China. Transl Neurodegener 10:7. https://doi.org/10.1186/s40035-021-00231-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY (2011) Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 43:1252–1255. https://doi.org/10.1038/ng.1008

Article  CAS  PubMed  Google Scholar 

Chen Y, Chen D, Zhao S, Liu G, Li H, Wu ZY (2021) Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions. Front Med 15:877–886. https://doi.org/10.1007/s11684-021-0863-4

Article  PubMed  Google Scholar 

Chen YL, Chen DF, Li HF, Wu ZY (2022) Features differ between paroxysmal kinesigenic dyskinesia patients with PRRT2 and TMEM151A variants. Mov Disord 37:608–613. https://doi.org/10.1002/mds.28939

Article  CAS  PubMed  Google Scholar 

Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C (2015) The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 138:3476–3495. https://doi.org/10.1093/brain/awv317

Article  PubMed  Google Scholar 

Erro R, Sheerin UM, Bhatia KP (2014) Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord 29:1108–1116. https://doi.org/10.1002/mds.25933

Article  PubMed  Google Scholar 

Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG (2016) Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 79:428–436. https://doi.org/10.1002/ana.24580

Article  CAS  PubMed  Google Scholar 

Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H (2015) The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain 138:3567–3580. https://doi.org/10.1093/brain/awv310

Article  PubMed  PubMed Central  Google Scholar 

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 90:152–160. https://doi.org/10.1016/j.ajhg.2011.12.003

Article  CAS  PubMed  PubMed Central  Google Scholar 

Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE (2004) Nonsense-mediated decay approaches the clinic. Nat Genet 36:801–808. https://doi.org/10.1038/ng1403

Article  CAS  PubMed  Google Scholar 

Huang XJ, Wang SG, Guo XN, Tian WT, Zhan FX, Zhu ZY, Yin XM, Liu Q, Yin KL, Liu XR, Zhang Y, Liu ZG, Liu XL, Zheng L, Wang T, Wu L, Rong TY, Wang Y, Zhang M, Bi GH, Tang WG, Zhang C, Zhong P, Wang CY, Tang JG, Lu W, Zhang RX, Zhao GH, Li XH, Li H, Chen T, Li HY, Luo XG, Song YY, Tang HD, Luan XH, Zhou HY, Tang BS, Chen SD, Cao L (2020) The phenotypic and genetic spectrum of paroxysmal kinesigenic dyskinesia in China. Mov Disord 35:1428–1437. https://doi.org/10.1002/mds.28061

Article  CAS  PubMed  Google Scholar 

Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, Tunyasuvunakool K, Bates R, Zidek A, Potapenko A, Bridgland A, Meyer C, Kohl SAA, Ballard AJ, Cowie A, Romera-Paredes B, Nikolov S, Jain R, Adler J, Back T, Petersen S, Reiman D, Clancy E, Zielinski M, Steinegger M, Pacholska M, Berghammer T, Bodenstein S, Silver D, Vinyals O, Senior AW, Kavukcuoglu K, Kohli P, Hassabis D (2021) Highly accurate protein structure prediction with AlphaFold. Nature 596:583–589. https://doi.org/10.1038/s41586-021-03819-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khajavi M, Inoue K, Lupski JR (2006) Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 14:1074–1081. https://doi.org/10.1038/sj.ejhg.5201649

Article  CAS  PubMed  Google Scholar 

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Muller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptacek LJ (2012) Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 1:2–12. https://doi.org/10.1016/j.celrep.2011.11.001

Article  CAS  PubMed  Google Scholar 

Li HF, Chen YL, Zhuang L, Chen DF, Ke HZ, Luo WJ, Liu GL, Wu SN, Zhou WH, Xiong ZQ, Wu ZY (2021) TMEM151A variants cause paroxysmal kinesigenic dyskinesia. Cell Discov 7:83. https://doi.org/10.1038/s41421-021-00322-w

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li YL, Lv WQ, Zeng YH, Chen YK, Wang XL, Yang K, Ding YL, Chen RK, Wang N, Chen WJ (2022) Exome-wide analyses in paroxysmal kinesigenic dyskinesia confirm TMEM151A as a novel causative gene. Mov Disord 37:641–643. https://doi.org/10.1002/mds.28904

Article  CAS  PubMed  Google Scholar 

Liu X, Ke H, Qian X, Wang S, Zhan F, Li Z, Tian W, Huang X, Zhang B, Cao L (2022) Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia. J Neurol 269:4717–4728. https://doi.org/10.1007/s00415-022-11103-0

Article  CAS  PubMed  Google Scholar 

Ma LY, Han L, Niu M, Chen L, Yu YZ, Feng T (2022) Screening of the TMEM151A gene in patients with paroxysmal kinesigenic dyskinesia and other movement disorders. Front Neurol 13:865690. https://doi.org/10.3389/fneur.2022.865690

Article  PubMed  PubMed Central  Google Scholar 

Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E (2012) PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 79:170–174. https://doi.org/10.1212/WNL.0b013e31825f06c3

Article  CAS  PubMed  Google Scholar 

Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E (2013) PRRT2 mutations and paroxysmal disorders. Eur J Neurol 20:872–878. https://doi.org/10.1111/ene.12104

Article  PubMed  Google Scholar 

Mounir Alaoui O, Charbonneau PF, Prin P, Mongin M, Choquer M, Damier P, Riant F, Degos B (2023) TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases. Parkinsonism Relat Disord 108:105295. https://doi.org/10.1016/j.parkreldis.2023.105295

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) 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. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Schultz J, Copley RR, Doerks T, Ponting CP, Bork P (2000) SMART: a web-based tool for the study of genetically mobile domains. Nucleic Acids Res 28:231–234. https://doi.org/10.1093/nar/28.1.231

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tian WT, Huang XJ, Mao X, Liu Q, Liu XL, Zeng S, Guo XN, Shen JY, Xu YQ, Tang HD, Yin XM, Zhang M, Tang WG, Liu XR, Tang BS, Chen SD, Cao L (2018) Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: clinical and genetic analyses of 163 patients. Mov Disord 33:459–467. https://doi.org/10.1002/mds.27274

Article  CAS  PubMed  Google Scholar 

Tian WT, Zhan FX, Liu ZH, Liu Z, Liu Q, Guo XN, Zhou ZW, Wang SG, Liu XR, Jiang H, Li XH, Zhao GH, Li HY, Tang JG, Bi GH, Zhong P, Yin XM, Liu TT, Ni RL, Zheng HR, Liu XL, Qian XH, Wu JY, Cao YW, Zhang C, Liu SH, Wu YY, Wang QF, Xu T, Hou WZ, Li ZY, Ke HY, Zhu ZY, Zheng L, Wang T, Rong TY, Wu L, Zhang Y, Fang K, Wang ZH, Zhang YK, Zhang M, Zhao YW, Tang BS, Luan XH, Huang XJ, Cao L (2022) TMEM151A variants cause paroxysmal kinesigenic dyskinesia: a large-sample study. Mov Disord 37:545–552. https://doi.org/10.1002/mds.28865

Article  CAS  PubMed  Google Scholar 

Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N (1999) Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 65:1688–1697. https://doi.org/10.1086/302682

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Vliet R, Breedveld G, de Rijk-van AJ, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, Boon M, Samijn J, Diderich K, van de Laar I, Oostra B, Bonifati V, Maat-Kievit A (2012) PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 79:777–784. https://doi.org/10.1212/WNL.0b013e3182661fe3

Article  CAS  PubMed  Google Scholar 

Varadi M, Anyango S, Deshpande M, Nair S, Natassia C, Yordanova G, Yuan D, Stroe O, Wood G, Laydon A, Zidek A, Green T, Tunyasuvunakool K, Petersen S, Jumper J, Clancy E, Green R, Vora A, Lutfi M, Figurnov M, Cowie A, Hobbs N, Kohli P, Kleywegt G, Birney E, Hassabis D, Velankar S (2022) AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. Nucleic Acids Res 50:D439–D444. https://doi.org/10.1093/nar/gkab1061

Article  CAS  PubMed  Google Scholar 

Wang HX, Li HF, Liu GL, Wen XD, Wu ZY (2016) Mutation analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative paroxysmal kinesigenic dyskinesia patients. Chin Med J (engl) 129:1017–1021. https://doi.org/10.4103/0366-6999.180529

Article  CAS  PubMed