Literature DB >> 26536886

Review of Commercially Available Epilepsy Genetic Panels.

Chelsea Chambers1,2, Laura A Jansen1, Radhika Dhamija3,4.   

Abstract

Next generation sequencing panels have revolutionized the diagnostic approach to patients with epilepsy. There are several commercial epilepsy panels available. We assessed the list of genes tested and consent forms for epilepsy panels available at seven laboratories. The panels varied in the number of genes included (70-465 genes). In some panels, genes not currently associated with epilepsy were included (up to 4 % of panel content). The panels also included genes for lysosomal storage disorders (6-12 %), congenital disorders of glycosylation (0-8.5 %), metabolic disorders (3.5-34 %), neurological syndromes (18-43 %) and multisystemic genetic syndromes (6.4-21 %). Informed consents differed significantly between laboratories ranging from basic information about genetic testing and possible results to information about insurance, genetic counseling and familial testing, and incidental findings.Our findings suggest that it is important to consider the range of genes offered on epilepsy panels and their predicted phenotypes in an effort toward improving the informed consent process.

Entities:  

Keywords:  Epilepsy; Genetic counselling; Next generation sequencing

Mesh:

Year:  2015        PMID: 26536886     DOI: 10.1007/s10897-015-9906-9

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  10 in total

1.  Naming and counting disorders (conditions) included in newborn screening panels.

Authors:  Lawrence Sweetman; David S Millington; Bradford L Therrell; W Harry Hannon; Bradley Popovich; Michael S Watson; Marie Y Mann; Michele A Lloyd-Puryear; Peter C van Dyck
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

Review 2.  Drug-resistant epilepsy.

Authors:  Patrick Kwan; Steven C Schachter; Martin J Brodie
Journal:  N Engl J Med       Date:  2011-09-08       Impact factor: 91.245

3.  Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

Authors:  Tom J de Koning; Jan D H Jongbloed; Birgit Sikkema-Raddatz; Richard J Sinke
Journal:  Expert Rev Mol Diagn       Date:  2014-11-04       Impact factor: 5.225

4.  Diagnostic yield of clinical next-generation sequencing panels for epilepsy.

Authors:  Jason Wang; Garrett Gotway; Juan M Pascual; Jason Y Park
Journal:  JAMA Neurol       Date:  2014-05       Impact factor: 18.302

Review 5.  Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist.

Authors:  Amanda W Pong; Deb K Pal; Wendy K Chung
Journal:  Pediatr Neurol       Date:  2011-05       Impact factor: 3.372

Review 6.  Epilepsy genetics revolutionizes clinical practice.

Authors:  Ingrid E Scheffer
Journal:  Neuropediatrics       Date:  2014-03-10       Impact factor: 1.947

7.  Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms.

Authors:  Julia Platt; Rachel Cox; Gregory M Enns
Journal:  J Genet Couns       Date:  2014-01-08       Impact factor: 2.537

8.  Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

Authors:  Pasquale Parisi; Antonio Oliva; Monica Coll Vidal; Sara Partemi; Oscar Campuzano; Anna Iglesias; Daniela Pisani; Vincenzo L Pascali; Maria Chiara Paolino; Maria Pia Villa; Federico Zara; Carlo Alberto Tassinari; Pasquale Striano; Ramon Brugada
Journal:  Epilepsy Res       Date:  2013-03-25       Impact factor: 3.045

9.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

10.  From genetic counseling to "genomic counseling".

Authors:  Kelly E Ormond
Journal:  Mol Genet Genomic Med       Date:  2013-11       Impact factor: 2.183

  10 in total
  17 in total

Review 1.  The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Authors:  Davide Mei; Elena Parrini; Carla Marini; Renzo Guerrini
Journal:  Mol Diagn Ther       Date:  2017-08       Impact factor: 4.074

2.  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

Review 3.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

4.  Modeling pathogenesis and treatment response in childhood absence epilepsy.

Authors:  Andrew T Knox; Tracy Glauser; Jeffrey Tenney; William W Lytton; Katherine Holland
Journal:  Epilepsia       Date:  2017-12-18       Impact factor: 5.864

5.  Commentary: 2016 Clinical Epilepsia Prize.

Authors:  David T Miller
Journal:  Epilepsia       Date:  2016-08-14       Impact factor: 5.864

Review 6.  Contemporary scope of inborn errors of metabolism involving epilepsy or seizures.

Authors:  Birutė Tumienė; Borut Peterlin; Aleš Maver; Algirdas Utkus
Journal:  Metab Brain Dis       Date:  2018-07-13       Impact factor: 3.584

7.  Customized multigene panels in epilepsy: the best things come in small packages.

Authors:  Simona Pellacani; Claudia Dosi; Giulia Valvo; Francesca Moro; Serena Mero; Federico Sicca; Filippo Maria Santorelli
Journal:  Neurogenetics       Date:  2019-12-13       Impact factor: 2.660

Review 8.  Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Authors:  Zornitza Stark; Rebecca E Foulger; Eleanor Williams; Bryony A Thompson; Chirag Patel; Sebastian Lunke; Catherine Snow; Ivone U S Leong; Arina Puzriakova; Louise C Daugherty; Sarah Leigh; Christopher Boustred; Olivia Niblock; Antonio Rueda-Martin; Oleg Gerasimenko; Kevin Savage; William Bellamy; Victor San Kho Lin; Roman Valls; Lavinia Gordon; Helen K Brittain; Ellen R A Thomas; Ana Lisa Taylor Tavares; Meriel McEntagart; Susan M White; Tiong Y Tan; Alison Yeung; Lilian Downie; Ivan Macciocca; Elena Savva; Crystle Lee; Ain Roesley; Paul De Fazio; Jane Deller; Zandra C Deans; Sue L Hill; Mark J Caulfield; Kathryn N North; Richard H Scott; Augusto Rendon; Oliver Hofmann; Ellen M McDonagh
Journal:  Am J Hum Genet       Date:  2021-07-29       Impact factor: 11.025

9.  Incidental Findings: The Importance of Pretest Counseling.

Authors:  Kathryn M Buchtel; Elizabeth A Leeth
Journal:  Pediatr Neurol Briefs       Date:  2015-12

10.  An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Authors:  Jacob P Miller; Hans J Moldenhauer; Sotirios Keros; Andrea L Meredith
Journal:  Channels (Austin)       Date:  2021-12       Impact factor: 2.581

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