Literature DB >> 23180180

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation.

Una-Marie Sheerin, Maria Stamelou, Gavin Charlesworth, Tamara Shiner, Sian Spacey, Enza-Maria Valente, Nicholas W Wood, Kailash P Bhatia.   

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Year:  2012        PMID： 23180180      PMCID： PMC4193291          DOI： 10.1007/s00415-012-6747-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

1.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

2.  Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.

Authors:  Li Cao; Xiao-Jun Huang; Lan Zheng; Qin Xiao; Xi-Jin Wang; Sheng-Di Chen
Journal:  Parkinsonism Relat Disord       Date:  2012-03-03       Impact factor: 4.891

3.  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

Review 4.  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

5.  Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.

Authors:  Kang Wang; Xiaoyu Zhao; Yue Du; Fangping He; Guoping Peng; Benyan Luo
Journal:  Brain Dev       Date:  2012-08-16       Impact factor: 1.961

6.  PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Authors:  Robin Cloarec; Nadine Bruneau; Gabrielle Rudolf; Annick Massacrier; Manal Salmi; Marc Bataillard; Clotilde Boulay; Roberto Caraballo; Natalio Fejerman; Pierre Genton; Edouard Hirsch; Alasdair Hunter; Gaetan Lesca; Jacques Motte; Agathe Roubertie; Damien Sanlaville; Sau-Wei Wong; Ying-Hui Fu; Jacques Rochette; Louis J Ptácek; Pierre Szepetowski
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

7.  PRRT2 mutations cause hemiplegic migraine.

Authors:  Florence Riant; Emmanuel Roze; Cecile Barbance; Aurélie Méneret; Lucie Guyant-Maréchal; Christian Lucas; Pascal Sabouraud; Agnes Trébuchon; Christel Depienne; Elisabeth Tournier-Lasserve
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

8.  Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.

Authors:  Sian D Spacey; Enza-Maria Valente; Gurusidheshwar M Wali; Thomas T Warner; Paul R Jarman; Anthony H V Schapira; Peter H Dixon; Mary B Davis; Kailash P Bhatia; Nicholas W Wood
Journal:  Mov Disord       Date:  2002-07       Impact factor: 10.338

9.  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

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
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  7 in total

1.  Re-evaluation of PRRT2 mutations in paroxysmal disorders.

Authors:  Xia Nan Guo; Qiang Lu; Xiang Qin Zhou; Qing Liu; Xue Zhang; Li-Ying Cui
Journal:  J Neurol       Date:  2014-03-09       Impact factor: 4.849

2.  Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Authors:  Wen Zheng; Jie Zhang; Xiong Deng; Jingjing Xiao; Lamei Yuan; Yan Yang; Liping Guan; Zhi Song; Zhijian Yang; Hao Deng
Journal:  Mol Neurobiol       Date:  2014-12-15       Impact factor: 5.590

3.  Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Authors:  Jinyoung Youn; Ji Sun Kim; Munhyang Lee; Jeehun Lee; Hakjae Roh; Chang-Seok Ki; Jin Whan Choa
Journal:  J Clin Neurol       Date:  2014-01-06       Impact factor: 3.077

Review 4.  Episodic movement disorders: from phenotype to genotype and back.

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

Review 5.  Recent advances in epilepsy.

Authors:  Stjepana Kovac; Matthew C Walker
Journal:  J Neurol       Date:  2014-03-04       Impact factor: 4.849

Review 6.  A rational approach to migraine diagnosis and management in primary care.

Authors:  Vincent T Martin; Alexander Feoktistov; Glen D Solomon
Journal:  Ann Med       Date:  2021-12       Impact factor: 4.709

7.  Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Authors:  Xiaoling Yang; Yuehua Zhang; Xiaojing Xu; Shuang Wang; Zhixian Yang; Ye Wu; Xiaoyan Liu; Xiru Wu
Journal:  BMC Neurol       Date:  2013-12-26       Impact factor: 2.474
  7 in total

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