Literature DB >> 19667324

16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child.

Jonathan Lipton1, Michael J Rivkin.   

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Year:  2009        PMID： 19667324     DOI： 10.1212/WNL.0b013e3181b16393

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

1.  Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Authors:  Jennifer Friedman; Jesus Olvera; Jennifer L Silhavy; Stacey B Gabriel; Joseph G Gleeson
Journal:  Neurology       Date:  2012-08-15       Impact factor: 9.910

Review 2.  The contribution of CNVs to the most common aging-related neurodegenerative diseases.

Authors:  Giulia Gentile; Valentina La Cognata; Sebastiano Cavallaro
Journal:  Aging Clin Exp Res       Date:  2020-02-06       Impact factor: 3.636

3.  Sulfotransferase 1A3/4 copy number variation is associated with neurodegenerative disease.

Authors:  N J Butcher; M K Horne; G D Mellick; C J Fowler; C L Masters; R F Minchin
Journal:  Pharmacogenomics J       Date:  2017-04-04       Impact factor: 3.550

4.  Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Authors:  Xiaoli Liu; Huiyi Ke; Xiaohang Qian; Shige Wang; Feixia Zhan; Ziyi Li; Wotu Tian; Xiaojun Huang; Bin Zhang; Li Cao
Journal:  J Neurol       Date:  2022-04-15       Impact factor: 6.682

5.  Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Authors:  Patrice Roll; Damien Sanlaville; Jennifer Cillario; Audrey Labalme; Nadine Bruneau; Annick Massacrier; Marc Délepine; Philippe Dessen; Vladimir Lazar; Andrée Robaglia-Schlupp; Gaëtan Lesca; Elisabeth Jouve; Gabrielle Rudolf; Jacques Rochette; G Mark Lathrop; Pierre Szepetowski
Journal:  PLoS One       Date:  2010-10-29       Impact factor: 3.240

6.  Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Authors:  Axel Weber; Angelika Köhler; Andreas Hahn; Bernd Neubauer; Ulrich Müller
Journal:  Neurogenetics       Date:  2013-10-08       Impact factor: 2.660

7.  Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.

Authors:  Jingyun Li; Xilin Zhu; Xin Wang; Wei Sun; Bing Feng; Te Du; Bei Sun; Fenghe Niu; Hua Wei; Xiaopan Wu; Lei Dong; Liping Li; Xingqiu Cai; Yuping Wang; Ying Liu
Journal:  J Med Genet       Date:  2011-11-30       Impact factor: 6.318

8.  Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

Authors:  Pichet Termsarasab; Amy C Yang; Jennifer Reiner; Hui Mei; Stuart A Scott; Steven J Frucht
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2014-11-17

9.  Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Authors:  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; 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
Journal:  Cell Rep       Date:  2011-12-15       Impact factor: 9.423

10.  16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.

Authors:  Wen Li; Yifan Wang; Bin Li; Bin Tang; Hui Sun; Jinxing Lai; Na He; Bingmei Li; Heng Meng; Weiping Liao; Xiaorong Liu
Journal:  Brain Behav       Date:  2018-10-11       Impact factor: 2.708
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