Literature DB >> 26316866

Genetics of Epilepsy in Clinical Practice.

Samuel F Berkovic1.   

Abstract

Genetics should now be part of everyday clinical epilepsy practice. Good data exist to provide empiric risks based on epilepsy syndrome diagnosis. Investigation of the molecular basis of some epilepsies is now a practical clinical task and is of clear value to the patient and family. In some cases, specific therapeutic decisions can now be made based on genetic findings, and this scenario of precision therapy is likely to increase in the coming years.

Entities:  

Year:  2015        PMID： 26316866      PMCID： PMC4532231          DOI： 10.5698/1535-7511-15.4.192

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


  46 in total

Review 1.  Ethical, legal, and social dimensions of epilepsy genetics.

Authors:  Sara Shostak; Ruth Ottman
Journal:  Epilepsia       Date:  2006-10       Impact factor: 5.864

Review 2.  My epilepsy story--the Tuberous Sclerosis Alliance.

Authors:  Jo Anne Nakagawa
Journal:  Epilepsia       Date:  2013-12-20       Impact factor: 5.864

3.  "It's good to know": experiences of gene identification and result disclosure in familial epilepsies.

Authors:  Danya F Vears; Karen L Dunn; Samantha A Wake; Ingrid E Scheffer
Journal:  Epilepsy Res       Date:  2015-02-16       Impact factor: 3.045

4.  Targeted treatment of migrating partial seizures of infancy with quinidine.

Authors:  David Bearden; Alanna Strong; Jessica Ehnot; Marissa DiGiovine; Dennis Dlugos; Ethan M Goldberg
Journal:  Ann Neurol       Date:  2014-07-26       Impact factor: 10.422

Review 5.  Somatic mutation, genomic variation, and neurological disease.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Christopher A Walsh
Journal:  Science       Date:  2013-07-05       Impact factor: 47.728

6.  SCN1A testing for epilepsy: application in clinical practice.

Authors:  Shinichi Hirose; Ingrid E Scheffer; Carla Marini; Peter De Jonghe; Eva Andermann; Alica M Goldman; Marcelo Kauffman; Nigel C K Tan; Daniel H Lowenstein; Sanjay M Sisodiya; Ruth Ottman; Samuel F Berkovic
Journal:  Epilepsia       Date:  2013-04-15       Impact factor: 5.864

Review 7.  Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Authors:  Toni S Pearson; Cigdem Akman; Veronica J Hinton; Kristin Engelstad; Darryl C De Vivo
Journal:  Curr Neurol Neurosci Rep       Date:  2013-04       Impact factor: 5.081

Review 8.  Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Authors:  Ingo Helbig; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Journal:  Lancet Neurol       Date:  2008-03       Impact factor: 44.182

9.  Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Authors:  Kim Hynes; Patrick Tarpey; Leanne M Dibbens; Marta A Bayly; Samuel F Berkovic; Raffaella Smith; Zahyia Al Raisi; Samantha J Turner; Natasha J Brown; Tarishi D Desai; Eric Haan; Gillian Turner; John Christodoulou; Helen Leonard; Deepak Gill; Michael R Stratton; Jozef Gecz; Ingrid E Scheffer
Journal:  J Med Genet       Date:  2009-09-14       Impact factor: 6.318

Review 10.  Genetic testing in the epilepsies-developments and dilemmas.

Authors:  Annapurna Poduri; Beth Rosen Sheidley; Sara Shostak; Ruth Ottman
Journal:  Nat Rev Neurol       Date:  2014-04-15       Impact factor: 42.937
View more
  16 in total

1.  Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey.

Authors:  Lindsay Ferraro; John R Pollard; Ingo Helbig
Journal:  Epilepsy Curr       Date:  2016 Jan-Feb       Impact factor: 7.500

2.  A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Authors:  Sushmitha Gururaj; Elizabeth Emma Palmer; Garrett D Sheehan; Tejaswi Kandula; Rebecca Macintosh; Kevin Ying; Paula Morris; Jiang Tao; Kerith-Rae Dias; Ying Zhu; Marcel E Dinger; Mark J Cowley; Edwin P Kirk; Tony Roscioli; Rani Sachdev; Michael E Duffey; Ann Bye; Arin Bhattacharjee
Journal:  Cell Rep       Date:  2017-10-24       Impact factor: 9.423

3.  Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Authors:  Kameryn M Butler; Cristina da Silva; John J Alexander; Madhuri Hegde; Andrew Escayg
Journal:  Pediatr Neurol       Date:  2017-09-06       Impact factor: 3.372

Review 4.  Epilepsy and brain channelopathies from infancy to adulthood.

Authors:  Emanuele Bartolini; Roberto Campostrini; Lorenzo Kiferle; Silvia Pradella; Eleonora Rosati; Krishna Chinthapalli; Pasquale Palumbo
Journal:  Neurol Sci       Date:  2019-12-14       Impact factor: 3.307

5.  A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Authors:  Norman Delanty; Gianpiero L Cavalleri; Katherine A Benson; Maire White; Nicholas M Allen; Susan Byrne; Robert Carton; Elizabeth Comerford; Daniel Costello; Colin Doherty; Brendan Dunleavey; Hany El-Naggar; Nisha Gangadharan; Sinéad Heavin; Hugh Kearney; Nicholas J Lench; John Lynch; Mark McCormack; Mary O' Regan; Karl Podesta; Kevin Power; Anthony S Rogers; Charles A Steward; Brian Sweeney; David Webb; Mary Fitzsimons; Marie Greally
Journal:  Eur J Hum Genet       Date:  2020-04-01       Impact factor: 4.246

Review 6.  Epilepsy: Is there hope?

Authors:  Carlos A M Guerreiro
Journal:  Indian J Med Res       Date:  2016-11       Impact factor: 2.375

Review 7.  Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.

Authors:  Paul Dunn; Cassie L Albury; Neven Maksemous; Miles C Benton; Heidi G Sutherland; Robert A Smith; Larisa M Haupt; Lyn R Griffiths
Journal:  Front Genet       Date:  2018-02-07       Impact factor: 4.599

8.  Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Authors:  Elizabeth E Palmer; Deborah Schofield; Rupendra Shrestha; Tejaswi Kandula; Rebecca Macintosh; John A Lawson; Ian Andrews; Hugo Sampaio; Alexandra M Johnson; Michelle A Farrar; Michael Cardamone; David Mowat; George Elakis; William Lo; Ying Zhu; Kevin Ying; Paula Morris; Jiang Tao; Kerith-Rae Dias; Michael Buckley; Marcel E Dinger; Mark J Cowley; Tony Roscioli; Edwin P Kirk; Ann Bye; Rani K Sachdev
Journal:  Mol Genet Genomic Med       Date:  2018-01-04       Impact factor: 2.183

Review 9.  Epileptic seizures.

Authors:  Haleema Anwar; Qudsia Umaira Khan; Natasha Nadeem; Iqra Pervaiz; Muhammad Ali; Fatima Fayyaz Cheema
Journal:  Discoveries (Craiova)       Date:  2020-06-12

10.  Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

Authors:  Václav Marcián; Pavel Filip; Martin Bareš; Milan Brázdil
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2016-06-23
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.