Wenn Genmutationen zu anfallsartigen Bewegungsstörungen führen

作者: Simone Zittel , Alexander Münchau

DOI: 10.1007/S15005-013-0572-X

关键词:

摘要: Paroxysmale Bewegungsstorungen gehoren zu den seltenen neurologischen Erkrankungen. Sie sind jedoch teilweise exzellent behandelbar und spielen daher differenzialdiagnostisch bei der Evaluation von Patienten mit paroxysmalen Storungen eine wichtige Rolle.

参考文章(47)
Christian B. Kaufman, Jonathan W. Mink, Jason M. Schwalb, Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. Journal of Neurosurgery. ,vol. 112, pp. 847- 850 ,(2010) , 10.3171/2009.9.JNS09454
Knut Brockmann, The expanding phenotype of GLUT1-deficiency syndrome Brain and Development. ,vol. 31, pp. 545- 552 ,(2009) , 10.1016/J.BRAINDEV.2009.02.008
Roberto Caraballo, Sylvana Pavek, Arnaud Lemainque, Marguerite Gastaldi, Bernard Echenne, Jacques Motte, Pierre Genton, Ricardo Cersósimo, Véronique Humbertclaude, Natalio Fejerman, Anthony P. Monaco, Mark G. Lathrop, Jacques Rochette, Pierre Szepetowski, Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome American Journal of Human Genetics. ,vol. 68, pp. 788- 794 ,(2001) , 10.1086/318805
Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong, PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort PLoS ONE. ,vol. 7, pp. e38543- ,(2012) , 10.1371/JOURNAL.PONE.0038543
S. D. Spacey, P. J. Adams, P.C.P. Lam, L. A. Materek, A. J. Stoessl, T. P. Snutch, G. -Y.R. Hsiung, Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia Neurology. ,vol. 66, pp. 1588- 1590 ,(2006) , 10.1212/01.WNL.0000217332.51740.7C
Meltem Demirkiran, Joseph Jankovic, Paroxysmal dyskinesias: Clinical features and classification Annals of Neurology. ,vol. 38, pp. 571- 579 ,(1995) , 10.1002/ANA.410380405
MK Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, DR Lynch, KD Mathews, KJ Swoboda, J Harris, B-W Soong, Tetsuo Ashizawa, J Jankovic, D Renner, Y-H Fu, LJ Ptacek, None, Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia New diagnostic criteria Neurology. ,vol. 63, pp. 2280- 2287 ,(2004) , 10.1212/01.WNL.0000147298.05983.50
P. Striano, Y. G. Weber, M. R. Toliat, J. Schubert, C. Leu, R. Chaimana, S. Baulac, R. Guerrero, E. LeGuern, A.- E. Lehesjoki, A. Polvi, A. Robbiano, J. M. Serratosa, R. Guerrini, P. Nurnberg, T. Sander, F. Zara, H. Lerche, C. Marini, , GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy Neurology. ,vol. 78, pp. 557- 562 ,(2012) , 10.1212/WNL.0B013E318247FF54
Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček, Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions Cell Reports. ,vol. 1, pp. 2- 12 ,(2012) , 10.1016/J.CELREP.2011.11.001
Pierre Szepetowski, Jacques Rochette, Patrick Berquin, Charles Piussan, G. Mark Lathrop, Anthony P. Monaco, Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16 American Journal of Human Genetics. ,vol. 61, pp. 889- 898 ,(1997) , 10.1086/514877