Literature DB >> 24733164

Genetic testing in the epilepsies-developments and dilemmas.

Annapurna Poduri1, Beth Rosen Sheidley1, Sara Shostak2, Ruth Ottman3.   

Abstract

In the past two decades, the number of genes recognized to have a role in the epilepsies has dramatically increased. The availability of testing for epilepsy-related genes is potentially helpful for clarification of the diagnosis and prognosis, selection of optimal treatments, and provision of information for family planning. For some patients, identification of a specific genetic cause of their epilepsy has important personal value, even in the absence of clear clinical utility. The availability of genetic testing also raises new issues that have only begun to be considered. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society.

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Year:  2014        PMID: 24733164      PMCID: PMC4090104          DOI: 10.1038/nrneurol.2014.60

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


  62 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

2.  Associates of stigma in an incident epilepsy population from northern Manhattan, New York City.

Authors:  Emily B Leaffer; Ann Jacoby; Emma Benn; W Allen Hauser; Tina Shih; Peter Dayan; Robert Green; Howard Andrews; David J Thurman; Dale Hesdorffer
Journal:  Epilepsy Behav       Date:  2011-04-11       Impact factor: 2.937

3.  Patient perceptions of epilepsy and of doctors who manage epilepsy.

Authors:  G Scambler
Journal:  Seizure       Date:  1994-12       Impact factor: 3.184

4.  Public knowledge, private grief: a study of public attitudes to epilepsy in the United Kingdom and implications for stigma.

Authors:  Ann Jacoby; Joanne Gorry; Carrol Gamble; Gus A Baker
Journal:  Epilepsia       Date:  2004-11       Impact factor: 5.864

5.  Categorizing genetic tests to identify their ethical, legal, and social implications.

Authors:  W Burke; L E Pinsky; N A Press
Journal:  Am J Med Genet       Date:  2001

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

7.  The effect of BRCA gene testing on family relationships: A thematic analysis of qualitative interviews.

Authors:  Heather A Douglas; Rebekah J Hamilton; Robin E Grubs
Journal:  J Genet Couns       Date:  2009-05-29       Impact factor: 2.537

8.  Genetics of common disease: a primary care priority aligned with a teachable moment?

Authors:  W Gregory Feero
Journal:  Genet Med       Date:  2008-02       Impact factor: 8.822

9.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

10.  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

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  32 in total

1.  Genetics of Epilepsy in Clinical Practice.

Authors:  Samuel F Berkovic
Journal:  Epilepsy Curr       Date:  2015 Jul-Aug       Impact factor: 7.500

Review 2.  Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

Authors:  Ryan S Dhindsa; David B Goldstein
Journal:  Curr Neurol Neurosci Rep       Date:  2015-10       Impact factor: 5.081

Review 3.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

4.  HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy.

Authors:  Annapurna Poduri
Journal:  Epilepsy Curr       Date:  2014 Nov-Dec       Impact factor: 7.500

5.  Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.

Authors:  Iván Sánchez Fernández; Tobias Loddenkemper; Marina Gaínza-Lein; Beth Rosen Sheidley; Annapurna Poduri
Journal:  Neurology       Date:  2019-01-04       Impact factor: 9.910

6.  Genetic causal attribution of epilepsy and its implications for felt stigma.

Authors:  Maya Sabatello; Jo C Phelan; Dale C Hesdorffer; Sara Shostak; Jeff Goldsmith; Shawn T Sorge; Melodie R Winawer; Wendy K Chung; Ruth Ottman
Journal:  Epilepsia       Date:  2015-08-20       Impact factor: 5.864

7.  Genetic testing preferences in families containing multiple individuals with epilepsy.

Authors:  Janice O Okeke; Virginia E Tangel; Shawn T Sorge; Dale C Hesdorffer; Melodie R Winawer; Jeff Goldsmith; Jo C Phelan; Wendy K Chung; Sara Shostak; Ruth Ottman
Journal:  Epilepsia       Date:  2014-09-29       Impact factor: 5.864

8.  Return of individual results in epilepsy genomic research: A view from the field.

Authors:  Ruth Ottman; Catharine Freyer; Heather C Mefford; Annapurna Poduri; Daniel H Lowenstein
Journal:  Epilepsia       Date:  2018-08-10       Impact factor: 5.864

9.  Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

Authors:  Shawn T Sorge; Dale C Hesdorffer; Jo C Phelan; Melodie R Winawer; Sara Shostak; Jeff Goldsmith; Wendy K Chung; Ruth Ottman
Journal:  Epilepsia       Date:  2016-08-25       Impact factor: 5.864

10.  Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Authors:  Heather E Olson; Dimira Tambunan; Christopher LaCoursiere; Marti Goldenberg; Rebecca Pinsky; Emilie Martin; Eugenia Ho; Omar Khwaja; Walter E Kaufmann; Annapurna Poduri
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802

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