Literature DB >> 26900367

Genetic Testing in Epileptic Encephalopathy: Rosetta Stone or Just an Expensive Rock?

M Scott Perry.   

Abstract

Entities:  

Year:  2016        PMID: 26900367      PMCID: PMC4749105          DOI: 10.5698/1535-7597-16.1.12

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


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  6 in total

1.  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

2.  Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Authors:  D A Dyment; M Tétreault; C L Beaulieu; T Hartley; P Ferreira; J W Chardon; J Marcadier; S L Sawyer; S J Mosca; A M Innes; J S Parboosingh; D E Bulman; J Schwartzentruber; J Majewski; M Tarnopolsky; K M Boycott
Journal:  Clin Genet       Date:  2014-08-28       Impact factor: 4.438

3.  The genetic landscape of infantile spasms.

Authors:  Jacques L Michaud; Mathieu Lachance; Fadi F Hamdan; Lionel Carmant; Anne Lortie; Paola Diadori; Philippe Major; Inge A Meijer; Emmanuelle Lemyre; Patrick Cossette; Heather C Mefford; Guy A Rouleau; Elsa Rossignol
Journal:  Hum Mol Genet       Date:  2014-04-29       Impact factor: 6.150

4.  How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium.

Authors:  Elaine C Wirrell; Renée A Shellhaas; Charuta Joshi; Cynthia Keator; Shilpi Kumar; Wendy G Mitchell
Journal:  Epilepsia       Date:  2015-03-16       Impact factor: 5.864

5.  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

6.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

  6 in total

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