Literature DB >> 23447732

A mutation hot-spot for benign infantile epilepsy.

Jennifer Kearney.   

Abstract

Entities:  

Year:  2013        PMID： 23447732      PMCID： PMC3577079          DOI： 10.5698/1535-7511-13.1.20

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  10 in total

1.  A human protein-protein interaction network: a resource for annotating the proteome.

Authors:  Ulrich Stelzl; Uwe Worm; Maciej Lalowski; Christian Haenig; Felix H Brembeck; Heike Goehler; Martin Stroedicke; Martina Zenkner; Anke Schoenherr; Susanne Koeppen; Jan Timm; Sascha Mintzlaff; Claudia Abraham; Nicole Bock; Silvia Kietzmann; Astrid Goedde; Engin Toksöz; Anja Droege; Sylvia Krobitsch; Bernhard Korn; Walter Birchmeier; Hans Lehrach; Erich E Wanker
Journal:  Cell       Date:  2005-09-23       Impact factor: 41.582

2.  PRRT2 mutations are the major cause of benign familial infantile seizures.

Authors:  Julian Schubert; Roberta Paravidino; Felicitas Becker; Andrea Berger; Nerses Bebek; Amedeo Bianchi; Knut Brockmann; Giuseppe Capovilla; Bernardo Dalla Bernardina; Yukio Fukuyama; Georg F Hoffmann; Karin Jurkat-Rott; Anna-Kaisa Anttonen; Gerhard Kurlemann; Anna-Elina Lehesjoki; Frank Lehmann-Horn; Massimo Mastrangelo; Ulrike Mause; Stephan Müller; Bernd Neubauer; Burkhard Püst; Dietz Rating; Angela Robbiano; Susanne Ruf; Christopher Schroeder; Andreas Seidel; Nicola Specchio; Ulrich Stephani; Pasquale Striano; Jens Teichler; Dilsad Turkdogan; Federico Vigevano; Maurizio Viri; Peter Bauer; Federico Zara; Holger Lerche; Yvonne G Weber
Journal:  Hum Mutat       Date:  2012-06-11       Impact factor: 4.878

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.  Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

Authors:  H a Tomita; S Nagamitsu; K Wakui; Y Fukushima; K Yamada; M Sadamatsu; A Masui; T Konishi; T Matsuishi; M Aihara; K Shimizu; K Hashimoto; M Mineta; M Matsushima; T Tsujita; M Saito; H Tanaka; S Tsuji; T Takagi; Y Nakamura; S Nanko; N Kato; Y Nakane; N Niikawa
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

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

6.  Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

Authors:  P Szepetowski; J Rochette; P Berquin; C Piussan; G M Lathrop; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

7.  Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

Authors:  R Caraballo; S Pavek; A Lemainque; M Gastaldi; B Echenne; J Motte; P Genton; R Cersósimo; V Humbertclaude; N Fejerman; A P Monaco; M G Lathrop; J Rochette; P Szepetowski
Journal:  Am J Hum Genet       Date:  2001-02-13       Impact factor: 11.025

8.  PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.

Authors:  Aurélie Méneret; David Grabli; Christel Depienne; Cécile Gaudebout; Fabienne Picard; Alexandra Dürr; Isabelle Lagroua; Delphine Bouteiller; Cyril Mignot; Diane Doummar; Mathieu Anheim; Christine Tranchant; Pierre Burbaud; Charles Pierre Jedynak; Domitille Gras; Dominique Steschenko; David Devos; Thierry Billette de Villemeur; Marie Vidailhet; Alexis Brice; Emmanuel Roze
Journal:  Neurology       Date:  2012-06-27       Impact factor: 9.910

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
  10 in total

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