Literature DB >> 26633954

The Expanding SCN8A-Related Epilepsy Phenotype.

Annapurna Poduri.   

Abstract

Entities:  

Year:  2015        PMID: 26633954      PMCID: PMC4657766          DOI: 10.5698/1535-7511-15.6.333

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


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  7 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.  The phenotypic spectrum of SCN8A encephalopathy.

Authors:  Jan Larsen; Gemma L Carvill; Elena Gardella; Gerhard Kluger; Gudrun Schmiedel; Nina Barisic; Christel Depienne; Eva Brilstra; Yuan Mang; Jens Erik Klint Nielsen; Martin Kirkpatrick; David Goudie; Rebecca Goldman; Johanna A Jähn; Birgit Jepsen; Deepak Gill; Miriam Döcker; Saskia Biskup; Jacinta M McMahon; Bobby Koeleman; Mandy Harris; Kees Braun; Carolien G F de Kovel; Carla Marini; Nicola Specchio; Tania Djémié; Sarah Weckhuysen; Niels Tommerup; Monica Troncoso; Ledia Troncoso; Andrea Bevot; Markus Wolff; Helle Hjalgrim; Renzo Guerrini; Ingrid E Scheffer; Heather C Mefford; Rikke S Møller
Journal:  Neurology       Date:  2015-01-07       Impact factor: 9.910

3.  De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Authors:  Krishna R Veeramah; Janelle E O'Brien; Miriam H Meisler; Xiaoyang Cheng; Sulayman D Dib-Hajj; Stephen G Waxman; Dinesh Talwar; Santhosh Girirajan; Evan E Eichler; Linda L Restifo; Robert P Erickson; Michael F Hammer
Journal:  Am J Hum Genet       Date:  2012-02-23       Impact factor: 11.025

4.  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

Review 5.  Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

Authors:  Jacy L Wagnon; Miriam H Meisler
Journal:  Front Neurol       Date:  2015-05-15       Impact factor: 4.003

6.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Authors:  Gemma L Carvill; Sinéad B Heavin; Simone C Yendle; Jacinta M McMahon; Brian J O'Roak; Joseph Cook; Adiba Khan; Michael O Dorschner; Molly Weaver; Sophie Calvert; Stephen Malone; Geoffrey Wallace; Thorsten Stanley; Ann M E Bye; Andrew Bleasel; Katherine B Howell; Sara Kivity; Mark T Mackay; Victoria Rodriguez-Casero; Richard Webster; Amos Korczyn; Zaid Afawi; Nathanel Zelnick; Tally Lerman-Sagie; Dorit Lev; Rikke S Møller; Deepak Gill; Danielle M Andrade; Jeremy L Freeman; Lynette G Sadleir; Jay Shendure; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Nat Genet       Date:  2013-05-26       Impact factor: 38.330

7.  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

  7 in total

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