Literature DB >> 28331464

When Should Genetic Testing Be Performed in Epilepsy Patients?

Annapurna Poduri1.   

Abstract

This review is a summary of a talk presented at the 2015 American Epilepsy Society Annual Meeting. Its purposes are 1) to review developments in epilepsy genetics, 2) to discuss which groups of patients with epilepsy might benefit from genetic testing, and 3) to present a rational approach to genetic testing in epilepsy in the rapidly evolving era of genomic medicine.

Entities:  

Year:  2017        PMID： 28331464      PMCID： PMC5340549          DOI： 10.5698/1535-7511-17.1.16

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


  56 in total

1.  PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Authors:  Laura A Jansen; Ghayda M Mirzaa; Gisele E Ishak; Brian J O'Roak; Joseph B Hiatt; William H Roden; Sonya A Gunter; Susan L Christian; Sarah Collins; Carissa Adams; Jean-Baptiste Rivière; Judith St-Onge; Jeffrey G Ojemann; Jay Shendure; Robert F Hevner; William B Dobyns
Journal:  Brain       Date:  2015-02-25       Impact factor: 13.501

2.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

3.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

4.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

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.  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

Review 7.  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

8.  Tissue-specific mutation accumulation in human adult stem cells during life.

Authors:  Francis Blokzijl; Joep de Ligt; Myrthe Jager; Valentina Sasselli; Sophie Roerink; Nobuo Sasaki; Meritxell Huch; Sander Boymans; Ewart Kuijk; Pjotr Prins; Isaac J Nijman; Inigo Martincorena; Michal Mokry; Caroline L Wiegerinck; Sabine Middendorp; Toshiro Sato; Gerald Schwank; Edward E S Nieuwenhuis; Monique M A Verstegen; Luc J W van der Laan; Jeroen de Jonge; Jan N M IJzermans; Robert G Vries; Marc van de Wetering; Michael R Stratton; Hans Clevers; Edwin Cuppen; Ruben van Boxtel
Journal:  Nature       Date:  2016-10-03       Impact factor: 49.962

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.  De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Authors:  Ghayda Mirzaa; David A Parry; Andrew E Fry; Kristin A Giamanco; Jeremy Schwartzentruber; Megan Vanstone; Clare V Logan; Nicola Roberts; Colin A Johnson; Shawn Singh; Stanislav S Kholmanskikh; Carissa Adams; Rebecca D Hodge; Robert F Hevner; David T Bonthron; Kees P J Braun; Laurence Faivre; Jean-Baptiste Rivière; Judith St-Onge; Karen W Gripp; Grazia Ms Mancini; Ki Pang; Elizabeth Sweeney; Hilde van Esch; Nienke Verbeek; Dagmar Wieczorek; Michelle Steinraths; Jacek Majewski; Kym M Boycot; Daniela T Pilz; M Elizabeth Ross; William B Dobyns; Eamonn G Sheridan
Journal:  Nat Genet       Date:  2014-04-06       Impact factor: 38.330
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  9 in total

1.  Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

Authors:  Christopher J Yuskaitis; Beth Rosen Sheidley; Annapurna Poduri
Journal:  JAMA Pediatr       Date:  2018-08-01       Impact factor: 16.193

2.  The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Authors:  Heather Leduc-Pessah; Alexandre White-Brown; Taila Hartley; Daniela Pohl; David A Dyment
Journal:  Genes (Basel)       Date:  2022-05-13       Impact factor: 4.141

3.  Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families.

Authors:  Diana C Garofalo; Shawn T Sorge; Dale C Hesdorffer; Melodie R Winawer; Jo C Phelan; Wendy K Chung; Ruth Ottman
Journal:  Epilepsia       Date:  2019-10-06       Impact factor: 5.864

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

5.  Reproductive decision-making in families containing multiple individuals with epilepsy.

Authors:  Jacquelyn Nakamura; Shawn T Sorge; Melodie R Winawer; Jo C Phelan; Wendy K Chung; Ruth Ottman
Journal:  Epilepsia       Date:  2021-04-04       Impact factor: 5.864

Review 6.  Experimental Therapeutic Strategies in Epilepsies Using Anti-Seizure Medications.

Authors:  Fakher Rahim; Reza Azizimalamiri; Mehdi Sayyah; Alireza Malayeri
Journal:  J Exp Pharmacol       Date:  2021-03-11

7.  Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Authors:  Rebecca Truty; Nila Patil; Raman Sankar; Joseph Sullivan; John Millichap; Gemma Carvill; Ali Entezam; Edward D Esplin; Amy Fuller; Michelle Hogue; Britt Johnson; Amirah Khouzam; Yuya Kobayashi; Rachel Lewis; Keith Nykamp; Darlene Riethmaier; Jody Westbrook; Michelle Zeman; Robert L Nussbaum; Swaroop Aradhya
Journal:  Epilepsia Open       Date:  2019-07-01

8.  A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.

Authors:  Lata Vadlamudi; Carmen Maree Bennett; Melanie Tom; Ghusoon Abdulrasool; Kristian Brion; Ben Lundie; Hnin Aung; Chiyan Lau; Jonathan Rodgers; Kate Riney; Louisa Gordon
Journal:  J Clin Med       Date:  2022-07-21       Impact factor: 4.964

9.  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
  9 in total

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