Literature DB >> 29844755

Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.

M Scott Perry, Annapurna Poduri.   

Abstract

Entities:  

Year:  2018        PMID： 29844755      PMCID： PMC5967592          DOI： 10.5698/1535-7597.18.1.24

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


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  10 in total

1.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2014-09-25       Impact factor: 11.025

2.  Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Authors:  Saadet Mercimek-Mahmutoglu; Jaina Patel; Dawn Cordeiro; Stacy Hewson; David Callen; Elizabeth J Donner; Cecil D Hahn; Peter Kannu; Jeff Kobayashi; Berge A Minassian; Mahendranath Moharir; Komudi Siriwardena; Shelly K Weiss; Rosanna Weksberg; O Carter Snead
Journal:  Epilepsia       Date:  2015-03-25       Impact factor: 5.864

3.  Neuroimaging abnormalities in children with an apparent first unprovoked seizure.

Authors:  S Shinnar; C O'Dell; R Mitnick; A T Berg; S L Moshe
Journal:  Epilepsy Res       Date:  2001-03       Impact factor: 3.045

4.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

5.  New-onset afebrile seizures in infants: role of neuroimaging.

Authors:  D T Hsieh; T Chang; T N Tsuchida; L G Vezina; A Vanderver; J Siedel; K Brown; M M Berl; S Stephens; A Zeitchick; W D Gaillard
Journal:  Neurology       Date:  2010-01-12       Impact factor: 9.910

Review 6.  The contribution of next generation sequencing to epilepsy genetics.

Authors:  Rikke S Møller; Hans A Dahl; Ingo Helbig
Journal:  Expert Rev Mol Diagn       Date:  2015-11-13       Impact factor: 5.225

7.  Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Authors:  Krishna R Veeramah; Laurel Johnstone; Tatiana M Karafet; Daniel Wolf; Ryan Sprissler; John Salogiannis; Asa Barth-Maron; Michael E Greenberg; Till Stuhlmann; Stefanie Weinert; Thomas J Jentsch; Marjorie Pazzi; Linda L Restifo; Dinesh Talwar; Robert P Erickson; Michael F Hammer
Journal:  Epilepsia       Date:  2013-05-03       Impact factor: 5.864

8.  Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.

Authors: 
Journal:  Ann Neurol       Date:  2015-07-01       Impact factor: 10.422

9.  Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Authors:  Natalie Trump; Amy McTague; Helen Brittain; Apostolos Papandreou; Esther Meyer; Adeline Ngoh; Rodger Palmer; Deborah Morrogh; Christopher Boustred; Jane A Hurst; Lucy Jenkins; Manju A Kurian; Richard H Scott
Journal:  J Med Genet       Date:  2016-03-18       Impact factor: 6.318

10.  Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

Authors:  Katherine L Helbig; Kelly D Farwell Hagman; Deepali N Shinde; Cameron Mroske; Zöe Powis; Shuwei Li; Sha Tang; Ingo Helbig
Journal:  Genet Med       Date:  2016-01-21       Impact factor: 8.822
  10 in total
  1 in total

Review 1.  From Genetic Testing to Precision Medicine in Epilepsy.

Authors:  Pasquale Striano; Berge A Minassian
Journal:  Neurotherapeutics       Date:  2020-04       Impact factor: 7.620
  1 in total

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