Literature DB >> 22895590

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

Jennifer Friedman1, Jesus Olvera, Jennifer L Silhavy, Stacey B Gabriel, Joseph G Gleeson.   

Abstract

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Year:  2012        PMID： 22895590      PMCID： PMC3425846          DOI： 10.1212/WNL.0b013e318266fabf

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


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  11 in total

1.  Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

Authors:  Russell C Dale; Padraic Grattan-Smith; Victor S C Fung; Greg B Peters
Journal:  Neurology       Date:  2011-09-21       Impact factor: 9.910

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

Authors:  Jonathan Lipton; Michael J Rivkin
Journal:  Neurology       Date:  2009-08-11       Impact factor: 9.910

3.  PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Authors:  Sarah E Heron; Bronwyn E Grinton; Sara Kivity; Zaid Afawi; Sameer M Zuberi; James N Hughes; Clair Pridmore; Bree L Hodgson; Xenia Iona; Lynette G Sadleir; James Pelekanos; Eric Herlenius; Hadassa Goldberg-Stern; Haim Bassan; Eric Haan; Amos D Korczyn; Alison E Gardner; Mark A Corbett; Jozef Gécz; Paul Q Thomas; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Leanne M Dibbens
Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025

4.  Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Authors:  Qing Liu; Zhan Qi; Xin-Hua Wan; Jing-Yun Li; Lei Shi; Qiang Lu; Xiang-Qin Zhou; Lei Qiao; Li-Wen Wu; Xiu-Qin Liu; Wei Yang; Ying Liu; Li-Ying Cui; Xue Zhang
Journal:  J Med Genet       Date:  2011-12-29       Impact factor: 6.318

5.  Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Authors:  Wan-Jin Chen; Yu Lin; Zhi-Qi Xiong; Wei Wei; Wang Ni; Guo-He Tan; Shun-Ling Guo; Jin He; Ya-Fang Chen; Qi-Jie Zhang; Hong-Fu Li; Yi Lin; Shen-Xing Murong; Jianfeng Xu; Ning Wang; Zhi-Ying Wu
Journal:  Nat Genet       Date:  2011-11-20       Impact factor: 38.330

Review 6.  Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.

Authors:  M K Bruno; M Hallett; K Gwinn-Hardy; B Sorensen; E Considine; S Tucker; D R Lynch; K D Mathews; K J Swoboda; J Harris; B W Soong; T Ashizawa; J Jankovic; D Renner; Y H Fu; L J Ptacek
Journal:  Neurology       Date:  2004-12-28       Impact factor: 9.910

7.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

8.  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

9.  Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Authors:  Jun-Ling Wang; Li Cao; Xun-Hua Li; Zheng-Mao Hu; Jia-Da Li; Jian-Guo Zhang; Yu Liang; Nan Li; Su-Qin Chen; Ji-Feng Guo; Hong Jiang; Lu Shen; Lan Zheng; Xiao Mao; Wei-Qian Yan; Ying Zhou; Yu-Ting Shi; San-Xi Ai; Mei-Zhi Dai; Peng Zhang; Kun Xia; Sheng-Di Chen; Bei-Sha Tang
Journal:  Brain       Date:  2011-11-26       Impact factor: 13.501

10.  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
View more
  7 in total

Review 1.  Episodic movement disorders: from phenotype to genotype and back.

Authors:  Knut Brockmann
Journal:  Curr Neurol Neurosci Rep       Date:  2013-10       Impact factor: 5.081

2.  PRRT2 mutations are related to febrile seizures in epileptic patients.

Authors:  Zheng-Wen He; Jian Qu; Ying Zhang; Chen-Xue Mao; Zhi-Bin Wang; Xiao-Yuan Mao; Zhi-Yong Deng; Bo-Ting Zhou; Ji-Ye Yin; Hong-Yu Long; Bo Xiao; Yu Zhang; Hong-Hao Zhou; Zhao-Qian Liu
Journal:  Int J Mol Sci       Date:  2014-12-16       Impact factor: 5.923

3.  Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Authors:  Shao-Yun Zhao; Li-Xi Li; Yu-Lan Chen; Yi-Jun Chen; Gong-Lu Liu; Hai-Lin Dong; Dian-Fu Chen; Hong-Fu Li; Zhi-Ying Wu
Journal:  CNS Neurosci Ther       Date:  2019-05-23       Impact factor: 5.243

Review 4.  The genetics of dystonia: new twists in an old tale.

Authors:  Gavin Charlesworth; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2013-06-17       Impact factor: 13.501

5.  Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.

Authors:  Dylan J Calame; Jianfeng Xiao; Mohammad Moshahid Khan; T J Hollingsworth; Yi Xue; Abigail L Person; Mark S LeDoux
Journal:  Neuroscience       Date:  2020-09-04       Impact factor: 3.708

Review 6.  Primary and secondary dystonic syndromes: an update.

Authors:  Gavin Charlesworth; Kailash P Bhatia
Journal:  Curr Opin Neurol       Date:  2013-08       Impact factor: 5.710

Review 7.  The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Authors:  Alice R Gardiner; Fatima Jaffer; Russell C Dale; Robyn Labrum; Roberto Erro; Esther Meyer; Georgia Xiromerisiou; Maria Stamelou; Matthew Walker; Dimitri Kullmann; Tom Warner; Paul Jarman; Mike Hanna; Manju A Kurian; Kailash P Bhatia; Henry Houlden
Journal:  Brain       Date:  2015-11-23       Impact factor: 13.501
  7 in total

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