Literature DB >> 29950950

Delving Deeper into DEPDC5.

Laura A Jansen.   

Abstract

Entities:  

Year:  2018        PMID： 29950950      PMCID： PMC6017681          DOI： 10.5698/1535-7597.18.3.197

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


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  14 in total

1.  A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.

Authors:  Christopher J Yuskaitis; Brandon M Jones; Rachel L Wolfson; Chloe E Super; Sameer C Dhamne; Alexander Rotenberg; David M Sabatini; Mustafa Sahin; Annapurna Poduri
Journal:  Neurobiol Dis       Date:  2017-12-20       Impact factor: 5.996

Review 2.  mTOR signaling pathway genes in focal epilepsies.

Authors:  S Baulac
Journal:  Prog Brain Res       Date:  2016-06-07       Impact factor: 2.453

3.  Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Authors:  Stéphanie Baulac; Saeko Ishida; Elise Marsan; Catherine Miquel; Arnaud Biraben; Dang Khoa Nguyen; Doug Nordli; Patrick Cossette; Sylvie Nguyen; Virginie Lambrecq; Mihaela Vlaicu; Maïlys Daniau; Franck Bielle; Eva Andermann; Frederick Andermann; Eric Leguern; Francine Chassoux; Fabienne Picard
Journal:  Ann Neurol       Date:  2015-03-13       Impact factor: 10.422

4.  Depdc5 knockout rat: A novel model of mTORopathy.

Authors:  Elise Marsan; Saeko Ishida; Adrien Schramm; Sarah Weckhuysen; Giuseppe Muraca; Sarah Lecas; Ning Liang; Caroline Treins; Mario Pende; Delphine Roussel; Michel Le Van Quyen; Tomoji Mashimo; Takehito Kaneko; Takashi Yamamoto; Tetsushi Sakuma; Séverine Mahon; Richard Miles; Eric Leguern; Stéphane Charpier; Stéphanie Baulac
Journal:  Neurobiol Dis       Date:  2016-02-09       Impact factor: 5.996

5.  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

6.  Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Authors:  Alissa M D'Gama; Ying Geng; Javier A Couto; Beth Martin; Evan A Boyle; Christopher M LaCoursiere; Amer Hossain; Nicole E Hatem; Brenda J Barry; David J Kwiatkowski; Harry V Vinters; A James Barkovich; Jay Shendure; Gary W Mathern; Christopher A Walsh; Annapurna Poduri
Journal:  Ann Neurol       Date:  2015-02-26       Impact factor: 10.422

7.  Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.

Authors:  Elizabeth Yuan; Peter T Tsai; Emily Greene-Colozzi; Mustafa Sahin; David J Kwiatkowski; Izabela A Malinowska
Journal:  Hum Mol Genet       Date:  2012-06-29       Impact factor: 6.150

8.  Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Authors:  Richard D Bagnall; Douglas E Crompton; Slavé Petrovski; Lien Lam; Carina Cutmore; Sarah I Garry; Lynette G Sadleir; Leanne M Dibbens; Anita Cairns; Sara Kivity; Zaid Afawi; Brigid M Regan; Johan Duflou; Samuel F Berkovic; Ingrid E Scheffer; Christopher Semsarian
Journal:  Ann Neurol       Date:  2016-02-02       Impact factor: 10.422

9.  A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.

Authors:  Liron Bar-Peled; Lynne Chantranupong; Andrew D Cherniack; Walter W Chen; Kathleen A Ottina; Brian C Grabiner; Eric D Spear; Scott L Carter; Matthew Meyerson; David M Sabatini
Journal:  Science       Date:  2013-05-31       Impact factor: 47.728

10.  Epileptic spasms are a feature of DEPDC5 mTORopathy.

Authors:  Gemma L Carvill; Douglas E Crompton; Brigid M Regan; Jacinta M McMahon; Julia Saykally; Matthew Zemel; Amy L Schneider; Leanne Dibbens; Katherine B Howell; Simone Mandelstam; Richard J Leventer; A Simon Harvey; Saul A Mullen; Samuel F Berkovic; Joseph Sullivan; Ingrid E Scheffer; Heather C Mefford
Journal:  Neurol Genet       Date:  2015-07-23
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