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1

Kim, N. L., and M. A. Yamin. "The case of paroxysmal kinesigenic dyskinesia: a long way from a symptom to the diagnosis." Almanac of Clinical Medicine 49, no. 3 (2021): 226–30. http://dx.doi.org/10.18786/2072-0505-2021-49-014.

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Paroxysmal kinesigenic dyskinesia belongs to the group of primary dyskinesias, which also includes paroxysmal non-kinesigenic dyskinesia and exercise-induced paroxysmal dyskinesia. Due to the rarity of this disease group, as well as to the existence of a wide spectrum of disorders associated with transient movement abnormalities, the diagnosis is often difficult. A thorough analysis of clinical presentation, objective registration of paroxysmal events (video-electroencephalography monitoring) is helpful in the diagnosis. The most common causes of paroxysmal kinesigenic dyskinesia are mutations
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2

Hobson, Douglas E. "Paroxysmal kinesigenic dyskinesia sans dyskinesia or paroxysmal kinesigenic dysesthesia?" Movement Disorders 25, no. 9 (2010): 1305–6. http://dx.doi.org/10.1002/mds.23077.

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3

Alibhoy, AT, Subhashie Wijemanne, and Ranjanie Gamage. "Paroxysmal kinesigenic dyskinesia." Ceylon Medical Journal 51, no. 1 (2009): 36. http://dx.doi.org/10.4038/cmj.v51i1.1377.

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4

Huang, Xiao-Jun, Tian Wang, Jun-Ling Wang, et al. "Paroxysmal kinesigenic dyskinesia." Neurology 85, no. 18 (2015): 1546–53. http://dx.doi.org/10.1212/wnl.0000000000002079.

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5

Paucar, Martin, Helena Malmgren, and Per Svenningsson. "Paroxysmal Kinesigenic Dyskinesia." Tremor and Other Hyperkinetic Movements 7 (December 12, 2017): 529. http://dx.doi.org/10.5334/tohm.393.

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6

Kaushik, Jaya Shankar, Kiran Bala, and Rachana Dubey. "Paroxysmal Kinesigenic Dyskinesia." Indian Pediatrics 55, no. 1 (2018): 74. http://dx.doi.org/10.1007/s13312-018-1235-2.

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7

Manso-Calderón, Raquel. "The spectrum of paroxysmal dyskinesias." Future Neurology 14, no. 3 (2019): FNL26. http://dx.doi.org/10.2217/fnl-2018-0047.

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Paroxysmal dyskinesias (PxD) comprise a group of heterogeneous syndromes characterized by recurrent attacks of mainly dystonia and/or chorea, without loss of consciousness. PxD have been classified according to their triggers and duration as paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia and paroxysmal exertion-induced dyskinesia. Of note, the spectrum of genetic and nongenetic conditions underlying PxD is continuously increasing, but not always a phenotype–etiology correlation exists. This creates a challenge in the diagnostic work-up, increased by the fact that most
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8

Millichap, J. Gordon. "Paroxysmal Kinesigenic Dyskinesia and Epilepsy." Pediatric Neurology Briefs 14, no. 8 (2000): 58. http://dx.doi.org/10.15844/pedneurbriefs-14-8-2.

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9

Zittel, S., C. Ganos, and A. Münchau. "Fatal paroxysmal non-kinesigenic dyskinesia." European Journal of Neurology 22, no. 2 (2015): e30-e31. http://dx.doi.org/10.1111/ene.12574.

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10

Frucht, Steven, and Stanley Fahn. "Paroxysmal kinesigenic dyskinesia in infancy." Movement Disorders 14, no. 4 (1999): 694–95. http://dx.doi.org/10.1002/1531-8257(199907)14:4<694::aid-mds1023>3.0.co;2-7.

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11

Mathew, Thomas, Sushanth Aroor, Raghunandan Nadig, and G. R. K. Sarma. "Lacosamide in paroxysmal kinesigenic dyskinesia." Movement Disorders 27, no. 6 (2012): 801–2. http://dx.doi.org/10.1002/mds.24928.

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12

Yoo, Dallah, Han‐Joon Kim, Ji‐Hyun Choi, Jin‐Hee Lim, and Beomseok Jeon. "Tics in Paroxysmal Kinesigenic Dyskinesia." Movement Disorders Clinical Practice 6, no. 6 (2019): 502–3. http://dx.doi.org/10.1002/mdc3.12779.

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13

Millichap, J. Gordon. "Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions." Pediatric Neurology Briefs 26, no. 11 (2012): 84. http://dx.doi.org/10.15844/pedneurbriefs-26-11-6.

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14

Ream, Margie, Bethanie Morgan-Followell, and Debabrata Ghosh. "Paroxysmal Kinesigenic Dyskinesia: Seeing Is Believing." Pediatric Neurology 53, no. 4 (2015): 369–70. http://dx.doi.org/10.1016/j.pediatrneurol.2015.03.003.

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15

Cottrill, Norman, Brian McCully, and Mary Payne. "Paroxysmal Kinesigenic Dyskinesia Presented Following Concussion." Journal of Movement Disorders 12, no. 1 (2019): 52–53. http://dx.doi.org/10.14802/jmd.18027.

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16

Kasikci, Tayfun, Semai Bek, Guray Koc, Mehmet Yucel, Yasar Kutukcu, and Zeki Odabasi. "Transcallosal conduction in paroxysmal kinesigenic dyskinesia." Somatosensory & Motor Research 34, no. 4 (2017): 235–41. http://dx.doi.org/10.1080/08990220.2017.1421158.

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17

Chiesa, Valentina, Filippo Tamma, Elena Gardella, Elena Caputo, Raffaele Canger, and Maria Paola Canevini. "Possible post-traumatic paroxysmal kinesigenic dyskinesia." Movement Disorders 23, no. 16 (2008): 2428–30. http://dx.doi.org/10.1002/mds.22326.

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18

Cochen De Cock, Valerie, Frederic Bourdain, Emmanuelle Apartis, Jean Marc Trocello, Emmanuel Roze, and Marie Vidailhet. "Interictal myoclonus with paroxysmal kinesigenic dyskinesia." Movement Disorders 21, no. 9 (2006): 1533–35. http://dx.doi.org/10.1002/mds.20992.

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19

Borchert, A., G. Moddel, and M. Schilling. "Teaching Video NeuroImages: Paroxysmal kinesigenic dyskinesia." Neurology 72, no. 23 (2009): e118-e118. http://dx.doi.org/10.1212/wnl.0b013e3181a92b66.

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20

KANG, S., Y. SOHN, H. KIM, C. LYOO, and M. LEE. "Corticospinal disinhibition in paroxysmal kinesigenic dyskinesia." Clinical Neurophysiology 117, no. 1 (2006): 57–60. http://dx.doi.org/10.1016/j.clinph.2005.09.007.

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21

Dayasiri, Kavinda, Nilushika Weerapperuma, Juliana Wright, and Geetha Anand. "Paroxysmal kinesigenic dyskinesia: a diagnostic challenge." BMJ Case Reports 14, no. 2 (2021): e235112. http://dx.doi.org/10.1136/bcr-2020-235112.

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A 10-year-old girl presented with a month long history of episodic limb movements. She had a normal neurological examination and after thorough investigation, she was thought to have possible tics. Anxiety was reported as being a trigger. Unusually, these ‘tics’ were not directly witnessed during hospital visits. Eighteen months after the initial presentation, the clinician observed dystonic posturing after the child stood up from having been seated during a consultation. Paroxysmal kinesigenic dyskinesia (PKD) was then suspected and confirmed on genetic testing. She was successfully treated w
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22

Millichap, J. Gordon. "Clinical Features of Idiopathic Paroxysmal Kinesigenic Dyskinesia." Pediatric Neurology Briefs 18, no. 12 (2004): 93. http://dx.doi.org/10.15844/pedneurbriefs-18-12-4.

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23

Diaz, Gloria E., Elaine C. Wirrell, Joseph Y. Matsumoto, and Karl N. Krecke. "Bilateral Striopallidodentate Calcinosis With Paroxysmal Kinesigenic Dyskinesia." Pediatric Neurology 43, no. 1 (2010): 46–48. http://dx.doi.org/10.1016/j.pediatrneurol.2010.03.013.

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24

Termsarasab, Pichet, Amy C. Yang, Jennifer Reiner, Hui Mei, Stuart A. Scott, and Steven J. Frucht. "Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion." Tremor and Other Hyperkinetic Movements 4 (November 17, 2014): 274. http://dx.doi.org/10.5334/tohm.212.

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25

Thomas, Reji, M. Behari, S. B. Gaikwad, and K. Prasad. "An unusual case of paroxysmal kinesigenic dyskinesia." Journal of Clinical Neuroscience 9, no. 1 (2002): 94–97. http://dx.doi.org/10.1054/jocn.2000.0905.

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26

Engelen, Marc, and Marina A. J. Tijssen. "Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome." Movement Disorders 20, no. 1 (2004): 111–13. http://dx.doi.org/10.1002/mds.20262.

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27

Balint, Bettina, Christos Ganos, and Kailash P. Bhatia. "Reply to: Tics in Paroxysmal Kinesigenic Dyskinesia." Movement Disorders Clinical Practice 6, no. 6 (2019): 504–5. http://dx.doi.org/10.1002/mdc3.12783.

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28

Depienne, C., and A. Brice. "Unlocking the genetics of paroxysmal kinesigenic dyskinesia." Brain 134, no. 12 (2011): 3431–34. http://dx.doi.org/10.1093/brain/awr319.

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29

Talan, Jamie. "New Mutation Implicated in Paroxysmal Kinesigenic Dyskinesia." Neurology Today 12, no. 2 (2012): 1. http://dx.doi.org/10.1097/01.nt.0000411146.04489.4e.

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30

Furukawa, Gen, Yutaka Negishi, Tomoya Takeuchi, Naoko Ishihara, and Akihisa Okumura. "Lacosamide for children with paroxysmal kinesigenic dyskinesia." Brain and Development 42, no. 8 (2020): 617–20. http://dx.doi.org/10.1016/j.braindev.2020.04.009.

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31

Pelz, David, Tae-Won Kim, In-Seok Park, and Joong-Seok Kim. "Reversible Splenial Lesion Following Rapid Withdrawal of Carbamazepine." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 4 (2014): 504–5. http://dx.doi.org/10.1017/s0317167100018564.

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A 19-year-old man with paroxysmal kinesigenic dyskinesia (PKD) taking 200mg carbamazepine per day for six years was admitted to our hospital because of a medical certificate for soldiers. The dyskinesias were usually precipitated by sudden movements and these attacks occurred several times a day and had a brief duration (less than one minute). The drug was abruptly withdrawn seven days before the brain imaging and video-electroencephalography monitoring. Magnetic resonance imaging showed cytotoxic edema in the splenium, which were completely resolved three months later (Figure).
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32

Pan, Fen, Shangda Li, Haimei Li, Yi Xu, and Manli Huang. "Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report." Neuropsychiatric Disease and Treatment Volume 14 (June 2018): 1433–35. http://dx.doi.org/10.2147/ndt.s163646.

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33

Shukla, Rakesh, Shuchit Pandey, VikramV Holla, and Abdul Qavi. "Paroxysmal kinesigenic dyskinesia: A frequently misdiagnosed movement disorder." Neurology India 64, no. 4 (2016): 792. http://dx.doi.org/10.4103/0028-3886.185413.

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34

Matsuura, Ryuki, Shin-ichiro Hamano, Erika Hiwatari, et al. "Zonisamide Therapy for Patients With Paroxysmal Kinesigenic Dyskinesia." Pediatric Neurology 111 (October 2020): 23–26. http://dx.doi.org/10.1016/j.pediatrneurol.2020.06.017.

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35

van Strien, Teun W., Anne-Fleur van Rootselaar, Anthony A. J. Hilgevoord, Wim H. J. P. Linssen, Alexander J. A. Groffen, and Marina A. J. Tijssen. "Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin." Parkinsonism & Related Disorders 18, no. 5 (2012): 645–48. http://dx.doi.org/10.1016/j.parkreldis.2012.03.006.

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36

Li, Feng, Zhong-dong Lin, Ying Hu, Wei Li, Chao-chao Xue, and Neha D. Poonit. "Lamotrigine monotherapy for paroxysmal kinesigenic dyskinesia in children." Seizure 37 (April 2016): 41–44. http://dx.doi.org/10.1016/j.seizure.2016.02.009.

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37

Junewar, V., R. Sahu, and R. Shukla. "Paroxysmal kinesigenic dyskinesia: a frequently misdiagnosed movement disorder." Case Reports 2014, feb25 2 (2014): bcr2014203681. http://dx.doi.org/10.1136/bcr-2014-203681.

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38

Micheli, Federico, Lorena Tschopp, and Maria Graciela Cersosimo. "Oxcarbazepine-Responsive Paroxysmal Kinesigenic Dyskinesia in Wilson Disease." Clinical Neuropharmacology 34, no. 6 (2011): 262–64. http://dx.doi.org/10.1097/wnf.0b013e3182348964.

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39

Pop, Roxana, and Stefan Kipfer. "Paroxysmal kinesigenic dyskinesia–like phenotype in multiple sclerosis." Multiple Sclerosis Journal 23, no. 13 (2017): 1795–97. http://dx.doi.org/10.1177/1352458517702535.

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In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months. PKD is characterized by recurrent uni- or bilateral c
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40

Baba, Yasuhiko, Marlene M. Normand, and Zbigniew K. Wszolek. "Paroxysmal kinesigenic dyskinesia associated with central pontine myelinolysis." Parkinsonism & Related Disorders 10, no. 2 (2003): 113. http://dx.doi.org/10.1016/j.parkreldis.2003.06.001.

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41

Lu, Qiang, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, and Qing Liu. "Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations." Annals of Translational Medicine 8, no. 1 (2020): 8. http://dx.doi.org/10.21037/atm.2019.11.31.

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42

Yen, Der-Jen, Din-E. Shan, and Shiang-Ru Lu. "Hyperthyroidism presenting as recurrent short paroxysmal kinesigenic dyskinesia." Movement Disorders 13, no. 2 (1998): 361–63. http://dx.doi.org/10.1002/mds.870130231.

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43

Kim, Mee Ohk, Joo-Hyuk Im, Choong Gon Choi, and Myoung Chong Lee. "Proton MR spectroscopic findings in paroxysmal kinesigenic dyskinesia." Movement Disorders 13, no. 3 (1998): 570–75. http://dx.doi.org/10.1002/mds.870130334.

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44

Shin, Hae-Won, Suk Y. Kang, Mark Hallett, and Young H. Sohn. "Extended surround inhibition in idiopathic paroxysmal kinesigenic dyskinesia." Clinical Neurophysiology 121, no. 7 (2010): 1138–41. http://dx.doi.org/10.1016/j.clinph.2010.02.001.

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45

Potoms, M., P. Aerssens, and W. Werckx. "P206 – 1647 Paroxysmal kinesigenic dyskinesia, an uncommon movement disorder." European Journal of Paediatric Neurology 17 (September 2013): S110. http://dx.doi.org/10.1016/s1090-3798(13)70385-4.

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46

Hanagasi, Hasmet A., Başar Bilgiç, Truus E. M. Abbink, et al. "Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation." Parkinsonism & Related Disorders 21, no. 5 (2015): 544–46. http://dx.doi.org/10.1016/j.parkreldis.2015.02.013.

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47

Kim, Aryun, Mihee Jang, Han-Joon Kim, et al. "Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia." Journal of Movement Disorders 11, no. 1 (2018): 49–51. http://dx.doi.org/10.14802/jmd.17056.

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48

Ohta, Y., Y. Manabe, C. Sasaki, et al. "A case of paroxysmal kinesigenic dyskinesia with spastic paraparesis." Neurological Research 24, no. 7 (2002): 684–86. http://dx.doi.org/10.1179/016164102101200582.

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49

CHEN, GUO-HONG. "Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis." Experimental and Therapeutic Medicine 9, no. 3 (2014): 909–12. http://dx.doi.org/10.3892/etm.2014.2155.

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50

Kumar, Hrishikesh, Angela South, and Mandar Jog. "Carbamazepine responsive dysphagia-A variant of paroxysmal kinesigenic dyskinesia?" Movement Disorders 26, no. 7 (2011): 1356–58. http://dx.doi.org/10.1002/mds.23541.

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