{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:45:11Z","timestamp":1780469111122,"version":"3.54.1"},"reference-count":66,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T00:00:00Z","timestamp":1505174400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Psychiatry"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1038\/mp.2017.179","type":"journal-article","created":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T08:01:28Z","timestamp":1505203288000},"page":"1487-1495","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family"],"prefix":"10.1038","volume":"23","author":[{"given":"N","family":"Sun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Nasello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Kwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z P","family":"Pang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G A","family":"Heiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Tischfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,9,12]]},"reference":[{"key":"BFmp2017179_CR1","first-page":"11","volume":"7","author":"N Sun","year":"2016","unstructured":"Sun N, Tischfield JA, King RA, Heiman GA . Functional evaluations of genes disrupted in patients with Tourette\u2019s disorder. Front Psychiatry 2016; 7: 11.","journal-title":"Front Psychiatry"},{"key":"BFmp2017179_CR2","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1016\/j.jocrd.2014.06.003","volume":"3","author":"DL Pauls","year":"2014","unstructured":"Pauls DL, Fernandez TV, Mathews CA, State MW, Scharf JM . The inheritance of Tourette disorder: a review. J Obsessive Compuls Relat Disord 2014; 3: 380\u2013385.","journal-title":"J Obsessive Compuls Relat Disord"},{"key":"BFmp2017179_CR3","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1038\/mp.2012.69","volume":"18","author":"JM Scharf","year":"2013","unstructured":"Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA et al. Genome-wide association study of Tourette's syndrome. Mol Psychiatry 2013; 18: 721\u2013728.","journal-title":"Mol Psychiatry"},{"key":"BFmp2017179_CR4","doi-asserted-by":"publisher","first-page":"1901","DOI":"10.1056\/NEJMoa0907006","volume":"362","author":"AG Ercan-Sencicek","year":"2010","unstructured":"Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE et al. L-histidine decarboxylase and Tourette's syndrome. N Engl J Med 2010; 362: 1901\u20131908.","journal-title":"N Engl J Med"},{"key":"BFmp2017179_CR5","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1126\/science.1116502","volume":"310","author":"JF Abelson","year":"2005","unstructured":"Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005; 310: 317\u2013320.","journal-title":"Science"},{"key":"BFmp2017179_CR6","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s00787-014-0543-x","volume":"24","author":"A Dietrich","year":"2015","unstructured":"Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ et al. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. Eur Child Adolesc Psychiatry 2015; 24: 141\u2013151.","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"BFmp2017179_CR7","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/1755-8794-1-58","volume":"1","author":"GA Heiman","year":"2008","unstructured":"Heiman GA, King RA, Tischfield JA . New Jersey Center for Tourette Syndrome sharing repository: methods and sample description. BMC Med Genomics 2008; 1: 58.","journal-title":"BMC Med Genomics"},{"key":"BFmp2017179_CR8","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1038\/nbt.2895","volume":"32","author":"H Hu","year":"2014","unstructured":"Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL et al. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotechnol 2014; 32: 663\u2013669.","journal-title":"Nat Biotechnol"},{"key":"BFmp2017179_CR9","first-page":"82","volume-title":"Biobanking in the Era of the Stem Cell: A Technical and Operational Guide","author":"CM Jennifer","year":"2012","unstructured":"Jennifer CM, Michael HS, Ronald PH . Biobanking in the Era of the Stem Cell: A Technical and Operational Guide. Morgan & Claypool Life Sciences, 2012 p 82."},{"key":"BFmp2017179_CR10","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1038\/nature08797","volume":"463","author":"T Vierbuchen","year":"2010","unstructured":"Vierbuchen T, Ostermeier A, Pang ZP, Kokubu Y, Sudhof TC, Wernig M . Direct conversion of fibroblasts to functional neurons by defined factors. Nature 2010; 463: 1035\u20131041.","journal-title":"Nature"},{"key":"BFmp2017179_CR11","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/nature10202","volume":"476","author":"ZP Pang","year":"2011","unstructured":"Pang ZP, Yang N, Vierbuchen T, Ostermeier A, Fuentes DR, Yang TQ et al. Induction of human neuronal cells by defined transcription factors. Nature 2011; 476: 220\u2013223.","journal-title":"Nature"},{"key":"BFmp2017179_CR12","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016; 536: 285\u2013291.","journal-title":"Nature"},{"key":"BFmp2017179_CR13","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1016\/j.neuron.2017.04.024","volume":"94","author":"AJ Willsey","year":"2017","unstructured":"Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J et al. De novo coding variants are strongly associated with tourette disorder. Neuron 2017; 94: 486\u2013499 e489.","journal-title":"Neuron"},{"key":"BFmp2017179_CR14","first-page":"135","volume":"59","author":"GT Fouad","year":"1996","unstructured":"Fouad GT, Servidei S, Durcan S, Bertini E, Ptacek LJ . A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996; 59: 135\u2013139.","journal-title":"Am J Hum Genet"},{"key":"BFmp2017179_CR15","doi-asserted-by":"publisher","first-page":"3161","DOI":"10.1093\/hmg\/ddh330","volume":"13","author":"HY Lee","year":"2004","unstructured":"Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004; 13: 3161\u20133170.","journal-title":"Hum Mol Genet"},{"key":"BFmp2017179_CR16","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/ana.410380405","volume":"38","author":"M Demirkiran","year":"1995","unstructured":"Demirkiran M, Jankovic J . Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38: 571\u2013579.","journal-title":"Ann Neurol"},{"key":"BFmp2017179_CR17","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1093\/hmg\/ddn441","volume":"18","author":"D Ghezzi","year":"2009","unstructured":"Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D et al. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 2009; 18: 1058\u20131064.","journal-title":"Hum Mol Genet"},{"key":"BFmp2017179_CR18","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1038\/nrm3454","volume":"13","author":"S Kervestin","year":"2012","unstructured":"Kervestin S, Jacobson A . NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol 2012; 13: 700\u2013712.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"BFmp2017179_CR19","doi-asserted-by":"publisher","first-page":"2322","DOI":"10.1093\/hmg\/ddr125","volume":"20","author":"Y Shen","year":"2011","unstructured":"Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, Fu YH et al. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet 2011; 20: 2322\u20132332.","journal-title":"Hum Mol Genet"},{"key":"BFmp2017179_CR20","doi-asserted-by":"publisher","first-page":"2935","DOI":"10.1073\/pnas.1501364112","volume":"112","author":"Y Shen","year":"2015","unstructured":"Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A et al. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. Proc Natl Acad Sci USA 2015; 112: 2935\u20132941.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"Suppl 1","key":"BFmp2017179_CR21","doi-asserted-by":"publisher","first-page":"S70","DOI":"10.1016\/S0387-7604(03)90012-X","volume":"25","author":"HS Singer","year":"2003","unstructured":"Singer HS, Minzer K . Neurobiology of Tourette\u2019s syndrome: concepts of neuroanatomic localization and neurochemical abnormalities. Brain Dev 2003; 25 (Suppl 1): S70\u2013S84.","journal-title":"Brain Dev"},{"key":"BFmp2017179_CR22","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/cne.22206","volume":"518","author":"Y Kataoka","year":"2010","unstructured":"Kataoka Y, Kalanithi PS, Grantz H, Schwartz ML, Saper C, Leckman JF et al. Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome. J comp neurol 2010; 518: 277\u2013291.","journal-title":"J comp neurol"},{"key":"BFmp2017179_CR23","doi-asserted-by":"publisher","first-page":"1896","DOI":"10.1016\/j.euroneuro.2014.10.007","volume":"24","author":"M Rapanelli","year":"2014","unstructured":"Rapanelli M, Frick LR, Pogorelov V, Ota KT, Abbasi E, Ohtsu H et al. Dysregulated intracellular signaling in the striatum in a pathophysiologically grounded model of Tourette syndrome. Eur Neuropsychopharmacol 2014; 24: 1896\u20131906.","journal-title":"Eur Neuropsychopharmacol"},{"key":"BFmp2017179_CR24","doi-asserted-by":"publisher","first-page":"16340","DOI":"10.1523\/JNEUROSCI.2770-15.2015","volume":"35","author":"M Israelashvili","year":"2015","unstructured":"Israelashvili M, Bar-Gad I . Corticostriatal divergent function in determining the temporal and spatial properties of motor tics. J Neurosci 2015; 35: 16340\u201316351.","journal-title":"J Neurosci"},{"key":"BFmp2017179_CR25","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.expneurol.2015.01.001","volume":"265","author":"V Pogorelov","year":"2015","unstructured":"Pogorelov V, Xu M, Smith HR, Buchanan GF, Pittenger C . Corticostriatal interactions in the generation of tic-like behaviors after local striatal disinhibition. Exp Neurol 2015; 265: 122\u2013128.","journal-title":"Exp Neurol"},{"key":"BFmp2017179_CR26","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1073\/pnas.1419533112","volume":"112","author":"M Xu","year":"2015","unstructured":"Xu M, Kobets A, Du JC, Lennington J, Li L, Banasr M et al. Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome. Proc Natl Acad Sci USA 2015; 112: 893\u2013898.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFmp2017179_CR27","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1016\/j.biopsych.2014.07.018","volume":"79","author":"JB Lennington","year":"2016","unstructured":"Lennington JB, Coppola G, Kataoka-Sasaki Y, Fernandez TV, Palejev D, Li Y et al. Transcriptome analysis of the human striatum in Tourette syndrome. Biol Psychiatry 2016; 79: 372\u2013382.","journal-title":"Biol Psychiatry"},{"key":"BFmp2017179_CR28","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1089\/cap.2009.0118","volume":"20","author":"JF Leckman","year":"2010","unstructured":"Leckman JF, Bloch MH, Smith ME, Larabi D, Hampson M . Neurobiological substrates of Tourette's disorder. J Child Adolesc Psychopharmacol 2010; 20: 237\u2013247.","journal-title":"J Child Adolesc Psychopharmacol"},{"key":"BFmp2017179_CR29","doi-asserted-by":"publisher","first-page":"13307","DOI":"10.1073\/pnas.0502624102","volume":"102","author":"PS Kalanithi","year":"2005","unstructured":"Kalanithi PS, Zheng W, Kataoka Y, DiFiglia M, Grantz H, Saper CB et al. Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome. Proc Natl Acad Sci USA 2005; 102: 13307\u201313312.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"Suppl 1","key":"BFmp2017179_CR30","doi-asserted-by":"publisher","first-page":"S15","DOI":"10.1016\/S0387-7604(03)90002-7","volume":"25","author":"E Saka","year":"2003","unstructured":"Saka E, Graybiel AM . Pathophysiology of Tourette's syndrome: striatal pathways revisited. Brain Dev 2003; 25 (Suppl 1): S15\u2013S19.","journal-title":"Brain Dev"},{"key":"BFmp2017179_CR31","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1001\/archpsyc.60.4.415","volume":"60","author":"BS Peterson","year":"2003","unstructured":"Peterson BS, Thomas P, Kane MJ, Scahill L, Zhang H, Bronen R et al. Basal Ganglia volumes in patients with Gilles de la Tourette syndrome. Arch Gen Psychiatry 2003; 60: 415\u2013424.","journal-title":"Arch Gen Psychiatry"},{"key":"BFmp2017179_CR32","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1176\/appi.ajp.2011.09111692","volume":"168","author":"ZS Wang","year":"2011","unstructured":"Wang ZS, Maia TV, Marsh R, Colibazzi T, Gerber A, Peterson BS . The neural circuits that generate tics in Tourette's syndrome. Am J Psychiat 2011; 168: 1326\u20131337.","journal-title":"Am J Psychiat"},{"key":"BFmp2017179_CR33","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.1176\/ajp.154.9.1277","volume":"154","author":"U Ziemann","year":"1997","unstructured":"Ziemann U, Paulus W, Rothenberger A . Decreased motor inhibition in Tourette\u2019s disorder: evidence from transcranial magnetic stimulation. Am J Psychiatry 1997; 154: 1277\u20131284.","journal-title":"Am J Psychiatry"},{"key":"BFmp2017179_CR34","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/nn.2121","volume":"11","author":"ER Sowell","year":"2008","unstructured":"Sowell ER, Kan E, Yoshii J, Thompson PM, Bansal R, Xu D et al. Thinning of sensorimotor cortices in children with Tourette syndrome. Nat Neurosci 2008; 11: 637\u2013639.","journal-title":"Nat Neurosci"},{"key":"BFmp2017179_CR35","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1016\/j.neubiorev.2008.08.013","volume":"33","author":"CM Stinear","year":"2009","unstructured":"Stinear CM, Coxon JP, Byblow WD . Primary motor cortex and movement prevention: where Stop meets Go. Neurosci Biobehav R 2009; 33: 662\u2013673.","journal-title":"Neurosci Biobehav R"},{"key":"BFmp2017179_CR36","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.1002\/mds.23186","volume":"25","author":"S Franzkowiak","year":"2010","unstructured":"Franzkowiak S, Pollok B, Biermann-Ruben K, Sudmeyer M, Paszek J, Jonas M et al. Altered pattern of motor cortical activation-inhibition during voluntary movements in Tourette syndrome. Mov Disord 2010; 25: 1960\u20131966.","journal-title":"Mov Disord"},{"key":"BFmp2017179_CR37","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1002\/mds.23706","volume":"26","author":"A Suppa","year":"2011","unstructured":"Suppa A, Belvisi D, Bologna M, Marsili L, Berardelli I, Moretti G et al. Abnormal cortical and brain stem plasticity in Gilles de la Tourette syndrome. Mov Disord 2011; 26: 1703\u20131710.","journal-title":"Mov Disord"},{"key":"BFmp2017179_CR38","doi-asserted-by":"publisher","first-page":"e27850","DOI":"10.1371\/journal.pone.0027850","volume":"7","author":"S Franzkowiak","year":"2012","unstructured":"Franzkowiak S, Pollok B, Biermann-Ruben K, Sudmeyer M, Paszek J, Thomalla G et al. Motor-cortical interaction in Gilles de la Tourette syndrome. PLoS One 2012; 7: e27850.","journal-title":"PLoS One"},{"key":"BFmp2017179_CR39","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/j.brs.2013.08.009","volume":"7","author":"T Bunse","year":"2014","unstructured":"Bunse T, Wobrock T, Strube W, Padberg F, Palm U, Falkai P et al. Motor cortical excitability assessed by transcranial magnetic stimulation in psychiatric disorders: a systematic review. Brain Stimul 2014; 7: 158\u2013169.","journal-title":"Brain Stimul"},{"key":"BFmp2017179_CR40","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1002\/mds.20044","volume":"19","author":"DL Gilbert","year":"2004","unstructured":"Gilbert DL, Bansal AS, Sethuraman G, Sallee FR, Zhang J, Lipps T et al. Association of cortical disinhibition with tic, ADHD, and OCD severity in Tourette syndrome. Mov Disord 2004; 19: 416\u2013425.","journal-title":"Mov Disord"},{"key":"BFmp2017179_CR41","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1007\/s00415-003-1102-4","volume":"250","author":"A Berardelli","year":"2003","unstructured":"Berardelli A, Curra A, Fabbrini G, Gilio F, Manfredi M . Pathophysiology of tics and Tourette syndrome. J Neurol 2003; 250: 781\u2013787.","journal-title":"J Neurol"},{"issue":"Pt 3","key":"BFmp2017179_CR42","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1093\/brain\/awn339","volume":"132","author":"G Thomalla","year":"2009","unstructured":"Thomalla G, Siebner HR, Jonas M, Baumer T, Biermann-Ruben K, Hummel F et al. Structural changes in the somatosensory system correlate with tic severity in Gilles de la Tourette syndrome. Brain 2009; 132 (Pt 3): 765\u2013777.","journal-title":"Brain"},{"key":"BFmp2017179_CR43","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1016\/j.cortex.2009.06.008","volume":"46","author":"C Fahim","year":"2010","unstructured":"Fahim C, Yoon U, Das S, Lyttelton O, Chen J, Arnaoutelis R et al. Somatosensory-motor bodily representation cortical thinning in Tourette: effects of tic severity, age and gender. Cortex 2010; 46: 750\u2013760.","journal-title":"Cortex"},{"key":"BFmp2017179_CR44","doi-asserted-by":"publisher","first-page":"1695","DOI":"10.1212\/01.wnl.0000242733.18534.2c","volume":"67","author":"DL Gilbert","year":"2006","unstructured":"Gilbert DL, Christian BT, Gelfand MJ, Shi B, Mantil J, Sallee FR . Altered mesolimbocortical and thalamic dopamine in Tourette syndrome. Neurology 2006; 67: 1695\u20131697.","journal-title":"Neurology"},{"key":"BFmp2017179_CR45","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1038\/nn.3801","volume":"17","author":"A Ramasamy","year":"2014","unstructured":"Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R et al. Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat Neurosci 2014; 17: 1418\u20131428.","journal-title":"Nat Neurosci"},{"key":"BFmp2017179_CR46","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1038\/ejhg.2011.220","volume":"20","author":"S Banka","year":"2012","unstructured":"Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N et al. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet 2012; 20: 381\u2013388.","journal-title":"Eur J Hum Genet"},{"key":"BFmp2017179_CR47","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1001\/archneur.61.7.1025","volume":"61","author":"S Rainier","year":"2004","unstructured":"Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004; 61: 1025\u20131029.","journal-title":"Arch Neurol"},{"key":"BFmp2017179_CR48","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1001\/archneur.62.4.597","volume":"62","author":"DH Chen","year":"2005","unstructured":"Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A et al. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 2005; 62: 597\u2013600.","journal-title":"Arch Neurol"},{"key":"BFmp2017179_CR49","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1001\/archneur.62.10.1641-a","volume":"62","author":"A Djarmati","year":"2005","unstructured":"Djarmati A, Svetel M, Momcilovic D, Kostic V, Klein C . Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. Arch Neurol 2005; 62: 1641.","journal-title":"Arch Neurol"},{"key":"BFmp2017179_CR50","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.neulet.2006.03.048","volume":"402","author":"A Hempelmann","year":"2006","unstructured":"Hempelmann A, Kumar S, Muralitharan S, Sander T . Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci Lett 2006; 402: 118\u2013120.","journal-title":"Neurosci Lett"},{"key":"BFmp2017179_CR51","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.jns.2012.08.015","volume":"323","author":"TH Yeh","year":"2012","unstructured":"Yeh TH, Lin JJ, Lai SC, Wu-Chou YH, Chen AC, Yueh KC et al. Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. J Neurol Sci 2012; 323: 80\u201384.","journal-title":"J Neurol Sci"},{"key":"BFmp2017179_CR52","first-page":"927587","volume":"2013","author":"R Fekete","year":"2013","unstructured":"Fekete R . Paroxysmal nonkinesigenic dyskinesia with tremor. Case Rep Neurol Med 2013; 2013: 927587.","journal-title":"Case Rep Neurol Med"},{"key":"BFmp2017179_CR53","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.ejpn.2011.09.008","volume":"16","author":"R Pons","year":"2012","unstructured":"Pons R, Cuenca-Leon E, Miravet E, Pons M, Xaidara A, Youroukos S et al. Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families. Eur J Paediatr Neuro 2012; 16: 86\u201389.","journal-title":"Eur J Paediatr Neuro"},{"key":"BFmp2017179_CR54","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.brainres.2014.07.047","volume":"1595","author":"SL Liang","year":"2015","unstructured":"Liang SL, Yu XM, Zhang SH, Tai JL . A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. Brain Res 2015; 1595: 120\u2013126.","journal-title":"Brain Res"},{"key":"BFmp2017179_CR55","doi-asserted-by":"publisher","first-page":"2010","DOI":"10.1002\/mds.21095","volume":"21","author":"E Stefanova","year":"2006","unstructured":"Stefanova E, Djarmati A, Momcilovic D, Dragasevic N, Svetel M, Klein C et al. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006; 21: 2010\u20132015.","journal-title":"Mov Disord"},{"key":"BFmp2017179_CR56","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.ejpn.2014.10.003","volume":"19","author":"D Ghezzi","year":"2015","unstructured":"Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C et al. A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. Eur J Paediatr Neurol 2015; 19: 64\u201368.","journal-title":"Eur J Paediatr Neurol"},{"key":"BFmp2017179_CR57","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.pediatrneurol.2009.02.013","volume":"41","author":"K Szczaluba","year":"2009","unstructured":"Szczaluba K, Jurek M, Szczepanik E, Friedman A, Milewski M, Bal J et al. A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. Pediatr Neurol 2009; 41: 135\u2013138.","journal-title":"Pediatr Neurol"},{"key":"BFmp2017179_CR58","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1172\/JCI58470","volume":"122","author":"HY Lee","year":"2012","unstructured":"Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y et al. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest 2012; 122: 507\u2013518.","journal-title":"J Clin Invest"},{"key":"BFmp2017179_CR59","unstructured":"Courtagen Diagnostics Laboratory. nucSEEK Case Report 2013."},{"issue":"Pt 12","key":"BFmp2017179_CR60","doi-asserted-by":"publisher","first-page":"3567","DOI":"10.1093\/brain\/awv310","volume":"138","author":"AR Gardiner","year":"2015","unstructured":"Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain 2015; 138 (Pt 12): 3567\u20133580.","journal-title":"Brain"},{"key":"BFmp2017179_CR61","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/S0092-8674(00)81373-2","volume":"87","author":"RA Ophoff","year":"1996","unstructured":"Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996; 87: 543\u2013552.","journal-title":"Cell"},{"key":"BFmp2017179_CR62","doi-asserted-by":"publisher","first-page":"1595","DOI":"10.1001\/archneur.60.11.1595","volume":"60","author":"C Kwak","year":"2003","unstructured":"Kwak C, Vuong KD, Jankovic J . Migraine headache in patients with Tourette syndrome. Arch Neurol 2003; 60: 1595\u20131598.","journal-title":"Arch Neurol"},{"key":"BFmp2017179_CR63","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1001\/archneur.1984.04050190077018","volume":"41","author":"G Barabas","year":"1984","unstructured":"Barabas G, Matthews WS, Ferrari M . Tourette's syndrome and migraine. Arch Neurol 1984; 41: 871\u2013872.","journal-title":"Arch Neurol"},{"key":"BFmp2017179_CR64","doi-asserted-by":"crossref","unstructured":"Oyama G, Okun MS, Ashizawa T, Malaty IA . Paroxysmal kinesigenic dyskinesia-like symptoms in a patient with tourette syndrome. Tremor Other Hyperkinet Mov (N Y) 2011; 1.","DOI":"10.5334\/tohm.79"},{"key":"BFmp2017179_CR65","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1111\/j.1469-8749.1995.tb12015.x","volume":"37","author":"JE Jan","year":"1995","unstructured":"Jan JE, Freeman RD, Good WV . Familial paroxysmal kinesigenic choreo-athetosis in a child with visual hallucinations and obsessive-compulsive behaviour. Dev Med Child Neurol 1995; 37: 366\u2013369.","journal-title":"Dev Med Child Neurol"},{"key":"BFmp2017179_CR66","doi-asserted-by":"publisher","first-page":"2280","DOI":"10.1212\/01.WNL.0000147298.05983.50","volume":"63","author":"MK Bruno","year":"2004","unstructured":"Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63: 2280\u20132287.","journal-title":"Neurology"}],"container-title":["Molecular Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/mp2017179.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/mp2017179","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/mp.2017.179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/mp2017179.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:17:34Z","timestamp":1684433854000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/mp2017179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,12]]},"references-count":66,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["BFmp2017179"],"URL":"https:\/\/doi.org\/10.1038\/mp.2017.179","relation":{},"ISSN":["1359-4184","1476-5578"],"issn-type":[{"value":"1359-4184","type":"print"},{"value":"1476-5578","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,12]]},"assertion":[{"value":"13 December 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}