Academic literature on the topic 'Paroxysmal kinesigenic dyskinesia'

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Journal articles on the topic "Paroxysmal kinesigenic dyskinesia"

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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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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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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "Paroxysmal kinesigenic dyskinesia"

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Méneret, Aurélie. "Génétique des mouvements anormaux : dyskinésies paroxystiques kinésigéniques et mouvements miroirs congénitaux." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066587.

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L'objectif de mon travail a été d'étudier les bases génétiques de deux maladies du mouvement, les mouvements miroirs congénitaux (CMM) et les dyskinésies paroxystiques kinésigéniques (PKD). Nous avons tout d'abord mis en évidence le deuxième gène impliqué dans les CMM, RAD51, et commencé à explorer quelques hypothèses physiopathologiques. Nous avons ensuite recueilli les ADN de 26 cas index de CMM isolés, et montré que près de 50% d'entre eux avaient un variant possiblement pathogène dans RAD51 ou dans le premier gène de CMM décrit, DCC. Nous avons ensuite écarté l'implication d'un troisième g
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Hsu, Wan-Yu, and 徐婉瑜. "Altered Inhibitory Modulation of Motor and Somatosensory Cortices in Paroxysmal Kinesigenic Dyskinesia." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/35204824959403904535.

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博士<br>國立陽明大學<br>腦科學研究所<br>102<br>Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder with dyskinetic movement triggered by sudden voluntary movements. The condition responds well to antiepileptic drugs (AEDs). However, little is known about the underlying mechanism of the disease. Previous studies have demonstrated dysfunction of thalamus or basal ganglia in patients with PKD. Corticospinal disinhibition was also reported. Since the dyskinetic movements in PKD patients are precipitated by voluntary movements, investigating changes in neural oscillatory activities related to
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Nian, Fang-Shin, and 粘芳馨. "Characterization of pathomechanisms of PRRT2 mutations involving Paroxysmal kinesigenic dyskinesia and its related neurological disorders." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/37e2mx.

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博士<br>國立陽明大學<br>分子醫學博士學位學程<br>107<br>Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene cause a wide spectrum of neurological diseases, including Paroxysmal Kinesigenic Dyskinesia (PKD) to mental retardation and epilepsy which implicated that PRRT2 might play an important role in the nervous system. Here, we reported that Prrt2 proteins are distributed widely in the brain and they are located at the pre- and post-synaptic membranes with a close spatial association with SNAP25 by synaptic membrane fractionation and immunostaining of the rat neurons. Using in utero electroporatio
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Books on the topic "Paroxysmal kinesigenic dyskinesia"

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Waln, Olga, and Joseph Jankovic. Paroxysmal Dyskinesias and Other Paroxysmal Movement Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0012.

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Paroxysmal dyskinesias are episodic, recurrent movement disorders characterized by attacks of dystonia, chorea, athetosis, ballism, or any combination of these hyperkinetic movements, with variable duration and frequency of the episodes and normal interictal neurological examination. Four main types of paroxysmal dyskinesias have been described: paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and paroxysmal hypnogenic dyskinesia. The disorders are usually inherited in autosomal dominant fashion and have their onset in the first t
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Walsh, Richard A. “It Has to Be Functional!”. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0026.

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The paroxysmal dyskinesias are a heterogeneous group of rare movement disorders, characterized by the abrupt onset of involuntary hyperkinetic movements with or without trigger factors and of variable duration. Interictal periods are marked by relative normality, although there is evidence for an association between some genotypes and migraine, episodic ataxia, and seizure disorders. Three genes have been identified that are associated with the three most common syndromes; however, these do not account for some cases with an otherwise typical history. The clinical phenotype continues to evolve
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Book chapters on the topic "Paroxysmal kinesigenic dyskinesia"

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Smilowska, Katarzyna, Roberto Erro, and Kailash P. Bhatia. "Paroxysmal Kinesigenic Dyskinesia." In Paroxysmal Movement Disorders. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-53721-0_3.

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Guduru, Zain, and Kapil D. Sethi. "Paroxysmal Non-kinesigenic Dyskinesia." In Paroxysmal Movement Disorders. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-53721-0_4.

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Kresojević, Nikola, Roberto Erro, and Kailash Bhatia. "Treatment of Paroxysmal Kinesigenic Dyskinesias." In Current Clinical Neurology. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-97897-0_71.

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Schneider, S. A., R. Erro, and K. P. Bhatia. "DYT8, Paroxysmal Non-kinesigenic Dyskinesia—PNKD☆." In Reference Module in Neuroscience and Biobehavioral Psychology. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-12-809324-5.00579-4.

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Conference papers on the topic "Paroxysmal kinesigenic dyskinesia"

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Dayasiri, MBKC, N. Weerapperuma, J. Wright, and G. Anand. "G53(P) Paroxysmal kinesigenic dyskinesia; a diagnostic challenge to the general paediatrician." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 25 September 2020–13 November 2020. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2020. http://dx.doi.org/10.1136/archdischild-2020-rcpch.39.

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