Literature DB >> 29671845

Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies.

Sunita N Misra, Jennifer A Kearney.   

Abstract

Entities:  

Year:  2018        PMID: 29671845      PMCID: PMC5898252          DOI: 10.5698/1535-7597.18.2.125

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


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  9 in total

1.  Genetic testing in epilepsy: what should you be doing?

Authors:  Ingrid E Scheffer
Journal:  Epilepsy Curr       Date:  2011-07       Impact factor: 7.500

2.  Clinical Genetic Testing in Epilepsy.

Authors:  Heather C Mefford
Journal:  Epilepsy Curr       Date:  2015 Jul-Aug       Impact factor: 7.500

3.  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

4.  ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.

Authors:  Ingrid E Scheffer; Samuel Berkovic; Giuseppe Capovilla; Mary B Connolly; Jacqueline French; Laura Guilhoto; Edouard Hirsch; Satish Jain; Gary W Mathern; Solomon L Moshé; Douglas R Nordli; Emilio Perucca; Torbjörn Tomson; Samuel Wiebe; Yue-Hua Zhang; Sameer M Zuberi
Journal:  Epilepsia       Date:  2017-03-08       Impact factor: 5.864

5.  Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

Authors:  M Shevell; S Ashwal; D Donley; J Flint; M Gingold; D Hirtz; A Majnemer; M Noetzel; R D Sheth
Journal:  Neurology       Date:  2003-02-11       Impact factor: 9.910

6.  GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Authors:  Nara Sobreira; François Schiettecatte; David Valle; Ada Hamosh
Journal:  Hum Mutat       Date:  2015-08-13       Impact factor: 4.878

7.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors:  Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal:  Am J Hum Genet       Date:  2009-04-02       Impact factor: 11.025

8.  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

9.  A framework for the interpretation of de novo mutation in human disease.

Authors:  Kaitlin E Samocha; Elise B Robinson; Stephan J Sanders; Christine Stevens; Aniko Sabo; Lauren M McGrath; Jack A Kosmicki; Karola Rehnström; Swapan Mallick; Andrew Kirby; Dennis P Wall; Daniel G MacArthur; Stacey B Gabriel; Mark DePristo; Shaun M Purcell; Aarno Palotie; Eric Boerwinkle; Joseph D Buxbaum; Edwin H Cook; Richard A Gibbs; Gerard D Schellenberg; James S Sutcliffe; Bernie Devlin; Kathryn Roeder; Benjamin M Neale; Mark J Daly
Journal:  Nat Genet       Date:  2014-08-03       Impact factor: 38.330

  9 in total

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