Literature DB >> 23609619

Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies.

Katy Malpass.   

Abstract

Entities:  

Year:  2013        PMID: 23609619     DOI: 10.1038/nrneurol.2013.77

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


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  2 in total

1.  Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

Authors:  Saeko Ishida; Fabienne Picard; Gabrielle Rudolf; Eric Noé; Guillaume Achaz; Pierre Thomas; Pierre Genton; Emeline Mundwiller; Markus Wolff; Christian Marescaux; Richard Miles; Michel Baulac; Edouard Hirsch; Eric Leguern; Stéphanie Baulac
Journal:  Nat Genet       Date:  2013-03-31       Impact factor: 38.330

2.  Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

Authors:  Leanne M Dibbens; Boukje de Vries; Simona Donatello; Sarah E Heron; Bree L Hodgson; Satyan Chintawar; Douglas E Crompton; James N Hughes; Susannah T Bellows; Karl Martin Klein; Petra M C Callenbach; Mark A Corbett; Alison E Gardner; Sara Kivity; Xenia Iona; Brigid M Regan; Claudia M Weller; Denis Crimmins; Terence J O'Brien; Rosa Guerrero-López; John C Mulley; Francois Dubeau; Laura Licchetta; Francesca Bisulli; Patrick Cossette; Paul Q Thomas; Jozef Gecz; Jose Serratosa; Oebele F Brouwer; Frederick Andermann; Eva Andermann; Arn M J M van den Maagdenberg; Massimo Pandolfo; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Nat Genet       Date:  2013-03-31       Impact factor: 38.330

  2 in total
  1 in total

1.  The GATOR2 Component Wdr24 Regulates TORC1 Activity and Lysosome Function.

Authors:  Weili Cai; Youheng Wei; Michal Jarnik; John Reich; Mary A Lilly
Journal:  PLoS Genet       Date:  2016-05-11       Impact factor: 5.917

  1 in total

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