Literature DB >> 26316867

Clinical Genetic Testing in Epilepsy.

Heather C Mefford1.   

Abstract

New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; therefore, it is important to understand the types of tests available and the types of mutations that can be detected. Making a genetic diagnosis improves overall patient care by enhancing prognosis and recurrence risk counseling and informing treatment decisions.

Entities:  

Year:  2015        PMID： 26316867      PMCID： PMC4532232          DOI： 10.5698/1535-7511-15.4.197

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


  27 in total

Review 1.  Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Authors:  Saul A Mullen; Gemma L Carvill; Susannah Bellows; Marta A Bayly; Holger Trucks; Dennis Lal; Thoman Sander; Samuel F Berkovic; Leanne M Dibbens; Ingrid E Scheffer; Heather C Mefford
Journal:  Neurology       Date:  2013-09-25       Impact factor: 9.910

2.  Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Authors:  Sarah E Heron; Katherine R Smith; Melanie Bahlo; Lino Nobili; Esther Kahana; Laura Licchetta; Karen L Oliver; Aziz Mazarib; Zaid Afawi; Amos Korczyn; Giuseppe Plazzi; Steven Petrou; Samuel F Berkovic; Ingrid E Scheffer; Leanne M Dibbens
Journal:  Nat Genet       Date:  2012-10-21       Impact factor: 38.330

3.  GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Authors:  Gemma L Carvill; Sarah Weckhuysen; Jacinta M McMahon; Corinna Hartmann; Rikke S Møller; Helle Hjalgrim; Joseph Cook; Eileen Geraghty; Brian J O'Roak; Steve Petrou; Alison Clarke; Deepak Gill; Lynette G Sadleir; Hiltrud Muhle; Sarah von Spiczak; Marina Nikanorova; Bree L Hodgson; Elena V Gazina; Arvid Suls; Jay Shendure; Leanne M Dibbens; Peter De Jonghe; Ingo Helbig; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Neurology       Date:  2014-03-12       Impact factor: 9.910

4.  Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Authors:  Johannes R Lemke; Erik Riesch; Tim Scheurenbrand; Max Schubach; Christian Wilhelm; Isabelle Steiner; Jörg Hansen; Carolina Courage; Sabina Gallati; Sarah Bürki; Susi Strozzi; Barbara Goeggel Simonetti; Sebastian Grunt; Maja Steinlin; Michael Alber; Markus Wolff; Thomas Klopstock; Eva C Prott; Rüdiger Lorenz; Christiane Spaich; Sabine Rona; Maya Lakshminarasimhan; Judith Kröll; Thomas Dorn; Günter Krämer; Matthis Synofzik; Felicitas Becker; Yvonne G Weber; Holger Lerche; Detlef Böhm; Saskia Biskup
Journal:  Epilepsia       Date:  2012-05-21       Impact factor: 5.864

5.  A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Authors:  Mark A Corbett; Melanie Bahlo; Lachlan Jolly; Zaid Afawi; Alison E Gardner; Karen L Oliver; Stanley Tan; Amy Coffey; John C Mulley; Leanne M Dibbens; Walid Simri; Adel Shalata; Sara Kivity; Graeme D Jackson; Samuel F Berkovic; Jozef Gecz
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

6.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

7.  Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Authors:  Heather C Mefford; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Karen Buysse; Carl Baker; Andre Franke; Alain Malafosse; Pierre Genton; Pierre Thomas; Christina A Gurnett; Stefan Schreiber; Alexander G Bassuk; Michel Guipponi; Ulrich Stephani; Ingo Helbig; Evan E Eichler
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

8.  Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Authors:  Johannes R Lemke; Dennis Lal; Eva M Reinthaler; Isabelle Steiner; Michael Nothnagel; Michael Alber; Kirsten Geider; Bodo Laube; Michael Schwake; Katrin Finsterwalder; Andre Franke; Markus Schilhabel; Johanna A Jähn; Hiltrud Muhle; Rainer Boor; Wim Van Paesschen; Roberto Caraballo; Natalio Fejerman; Sarah Weckhuysen; Peter De Jonghe; Jan Larsen; Rikke S Møller; Helle Hjalgrim; Laura Addis; Shan Tang; Elaine Hughes; Deb K Pal; Kadi Veri; Ulvi Vaher; Tiina Talvik; Petia Dimova; Rosa Guerrero López; José M Serratosa; Tarja Linnankivi; Anna-Elina Lehesjoki; Susanne Ruf; Markus Wolff; Sarah Buerki; Gabriele Wohlrab; Judith Kroell; Alexandre N Datta; Barbara Fiedler; Gerhard Kurlemann; Gerhard Kluger; Andreas Hahn; D Edda Haberlandt; Christina Kutzer; Jürgen Sperner; Felicitas Becker; Yvonne G Weber; Martha Feucht; Hannelore Steinböck; Birgit Neophythou; Gabriel M Ronen; Ursula Gruber-Sedlmayr; Julia Geldner; Robert J Harvey; Per Hoffmann; Stefan Herms; Janine Altmüller; Mohammad R Toliat; Holger Thiele; Peter Nürnberg; Christian Wilhelm; Ulrich Stephani; Ingo Helbig; Holger Lerche; Fritz Zimprich; Bernd A Neubauer; Saskia Biskup; Sarah von Spiczak
Journal:  Nat Genet       Date:  2013-08-11       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

10.  GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Authors:  Gemma L Carvill; Brigid M Regan; Simone C Yendle; Brian J O'Roak; Natalia Lozovaya; Nadine Bruneau; Nail Burnashev; Adiba Khan; Joseph Cook; Eileen Geraghty; Lynette G Sadleir; Samantha J Turner; Meng-Han Tsai; Richard Webster; Robert Ouvrier; John A Damiano; Samuel F Berkovic; Jay Shendure; Michael S Hildebrand; Pierre Szepetowski; Ingrid E Scheffer; Heather C Mefford
Journal:  Nat Genet       Date:  2013-08-11       Impact factor: 38.330
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  7 in total

1.  High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.

Authors:  Joyce So; Venuja Sriretnakumar; Jessica Suddaby; Brianna Barsanti-Innes; Hanna Faghfoury; Timothy Gofine
Journal:  Can J Psychiatry       Date:  2020-06-04       Impact factor: 4.356

2.  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

3.  Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies.

Authors:  Sunita N Misra; Jennifer A Kearney
Journal:  Epilepsy Curr       Date:  2018 Mar-Apr       Impact factor: 7.500

4.  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 5.  Molecular Genetics of Epilepsy: A Clinician's Perspective.

Authors:  Vikas Dhiman
Journal:  Ann Indian Acad Neurol       Date:  2017 Apr-Jun       Impact factor: 1.383

6.  Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms.

Authors:  Jing Gan; Qianyun Cai; Peter Galer; Dan Ma; Xiaolu Chen; Jichong Huang; Shan Bao; Rong Luo
Journal:  Medicine (Baltimore)       Date:  2019-08       Impact factor: 1.817

7.  Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.

Authors:  Anca-Lelia Riza; Ioana Streață; Eugenia Roza; Magdalena Budișteanu; Catrinel Iliescu; Carmen Burloiu; Mihaela-Amelia Dobrescu; Stefania Dorobanțu; Adina Dragoș; Andra Grigorescu; Tiberiu Tătaru; Mihai Ioana; Raluca Teleanu
Journal:  Genes (Basel)       Date:  2022-07-15       Impact factor: 4.141
  7 in total

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