Literature DB >> 28818698

A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.

Edibe Pembegul Yildiz1, Gozde Yesil2, Melis Ulak Ozkan3, Gonca Bektas4, Mine Caliskan5, Meral Ozmen6.   

Abstract

Entities:  

Keywords:  Childhood; EPM2A; Lafora disease; Parkinsonism

Mesh：

Substances：

Year:  2017        PMID： 28818698     DOI： 10.1016/j.seizure.2017.07.011

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  4 in total

Review 1.  Lafora disease: from genotype to phenotype.

Authors:  Rashmi Parihar; Anupama Rai; Subramaniam Ganesh
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

2.  Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Authors:  Antonella Riva; Alessandro Orsini; Marcello Scala; Vittoria Taramasso; Laura Canafoglia; Giuseppe d'Orsi; Maria Teresa Di Claudio; Carlo Avolio; Alfredo D'Aniello; Maurizio Elia; Silvana Franceschetti; Giancarlo Di Gennaro; Francesca Bisulli; Paolo Tinuper; Maria Tappatà; Antonino Romeo; Elena Freri; Carla Marini; Cinzia Costa; Vito Sofia; Edoardo Ferlazzo; Adriana Magaudda; Pierangelo Veggiotti; Elena Gennaro; Angela Pistorio; Carlo Minetti; Amedeo Bianchi; Salvatore Striano; Roberto Michelucci; Federico Zara; Berge Arakel Minassian; Pasquale Striano
Journal:  J Neurol Sci       Date:  2021-03-20       Impact factor: 3.181

3.  Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Authors:  Luca Vignatelli; Francesca Bisulli; Federica Pondrelli; Lorenzo Muccioli; Laura Licchetta; Barbara Mostacci; Corrado Zenesini; Paolo Tinuper
Journal:  Orphanet J Rare Dis       Date:  2021-08-16       Impact factor: 4.123

4.  Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Authors:  Koji Obara; Erika Abe; Itaru Toyoshima
Journal:  Case Rep Neurol       Date:  2021-03-22
  4 in total

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