Literature DB >> 24940165

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

Andrew Escayg, Jennifer C Wong.   

Abstract

Entities:  

Year:  2014        PMID: 24940165      PMCID: PMC4038286          DOI: 10.5698/1535-7597-14.3.158

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


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  9 in total

1.  De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Authors:  Arvid Suls; Johanna A Jaehn; Angela Kecskés; Yvonne Weber; Sarah Weckhuysen; Dana C Craiu; Aleksandra Siekierska; Tania Djémié; Tatiana Afrikanova; Padhraig Gormley; Sarah von Spiczak; Gerhard Kluger; Catrinel M Iliescu; Tiina Talvik; Inga Talvik; Cihan Meral; Hande S Caglayan; Beatriz G Giraldez; José Serratosa; Johannes R Lemke; Dorota Hoffman-Zacharska; Elzbieta Szczepanik; Nina Barisic; Vladimir Komarek; Helle Hjalgrim; Rikke S Møller; Tarja Linnankivi; Petia Dimova; Pasquale Striano; Federico Zara; Carla Marini; Renzo Guerrini; Christel Depienne; Stéphanie Baulac; Gregor Kuhlenbäumer; Alexander D Crawford; Anna-Elina Lehesjoki; Peter A M de Witte; Aarno Palotie; Holger Lerche; Camila V Esguerra; Peter De Jonghe; Ingo Helbig
Journal:  Am J Hum Genet       Date:  2013-10-24       Impact factor: 11.025

2.  De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

Authors:  Ulvi Vaher; Margit Nõukas; Tiit Nikopensius; Mart Kals; Tarmo Annilo; Mari Nelis; Katrin Ounap; Tiia Reimand; Inga Talvik; Pilvi Ilves; Andres Piirsoo; Enn Seppet; Andres Metspalu; Tiina Talvik
Journal:  J Child Neurol       Date:  2013-12-18       Impact factor: 1.987

3.  NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.

Authors:  Anas M Alazami; Hadia Hijazi; Amal Y Kentab; Fowzan S Alkuraya
Journal:  J Med Genet       Date:  2014-01-07       Impact factor: 6.318

4.  Rare copy number variants are an important cause of epileptic encephalopathies.

Authors:  Heather C Mefford; Simone C Yendle; Cynthia Hsu; Joseph Cook; Eileen Geraghty; Jacinta M McMahon; Orvar Eeg-Olofsson; Lynette G Sadleir; Deepak Gill; Bruria Ben-Zeev; Tally Lerman-Sagie; Mark Mackay; Jeremy L Freeman; Eva Andermann; James T Pelakanos; Ian Andrews; Geoffrey Wallace; Evan E Eichler; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Ann Neurol       Date:  2011-12       Impact factor: 10.422

5.  Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

Authors:  Aitor Delmiro; Henry Rivera; María Teresa García-Silva; Inés García-Consuegra; Elena Martín-Hernández; Pilar Quijada-Fraile; Rogelio Simón de Las Heras; Ana Moreno-Izquierdo; Miguel Ángel Martín; Joaquín Arenas; Francisco Martínez-Azorín
Journal:  Hum Mutat       Date:  2013-10-10       Impact factor: 4.878

6.  Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Authors:  Lina Basel-Vanagaite; Tova Hershkovitz; Eli Heyman; Miquel Raspall-Chaure; Naseebullah Kakar; Pola Smirin-Yosef; Marta Vila-Pueyo; Liora Kornreich; Holger Thiele; Harald Bode; Irina Lagovsky; Dvir Dahary; Ami Haviv; Monika Weisz Hubshman; Metsada Pasmanik-Chor; Peter Nürnberg; Doron Gothelf; Christian Kubisch; Mordechai Shohat; Alfons Macaya; Guntram Borck
Journal:  Am J Hum Genet       Date:  2013-08-08       Impact factor: 11.025

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.  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

9.  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 in total
  1 in total

Review 1.  Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages.

Authors:  Hans Holthausen; Tom Pieper; Peter Winkler; Ingmar Bluemcke; Manfred Kudernatsch
Journal:  Childs Nerv Syst       Date:  2014-09-27       Impact factor: 1.475

  1 in total

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