Literature DB >> 31941393

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.

Marcello Scala1,2, Amedeo Bianchi3, Francesca Bisulli4, Antonietta Coppola5, Maurizio Elia6, Marina Trivisano7,8, Dario Pruna9, Tommaso Pippucci10, Laura Canafoglia11, Simona Lattanzi12, Silvana Franceschetti11, Carlo Nobile13, Antonio Gambardella14, Roberto Michelucci15, Federico Zara16, Pasquale Striano1,2.   

Abstract

Introduction: Epileptic disorders are a heterogeneous group of medical conditions with epilepsy as the common denominator. Genetic causes, electro-clinical features, and management significantly vary according to the specific condition.Areas covered: Relevant diagnostic advances have been achieved thanks to the advent of Next Generation Sequencing (NGS)-based molecular techniques. These revolutionary tools allow to sequence all coding (whole exome sequencing, WES) and non-coding (whole genome sequencing, WGS) regions of human genome, with a potentially huge impact on patient care and scientific research.Expert opinion: The application of these tests in children and adults with epilepsy has led to the identification of new causative genes, widening the knowledge on the pathophysiology of epilepsy and resulting in therapeutic implications. This review will explore the most recent advancements in genetic testing and provide up-to-date approaches for the choice of the correct test in patients with epilepsy.

Entities:  

Keywords:  Epilepsy; antiepileptic drugs; genetic testing; next Generation Sequencing; surgery; therapy; whole Exome Sequencing

Mesh:

Year:  2020        PMID: 31941393     DOI: 10.1080/14737175.2020.1713101

Source DB:  PubMed          Journal:  Expert Rev Neurother        ISSN: 1473-7175            Impact factor:   4.618


  12 in total

1.  A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.

Authors:  Abolfazl Yari; Reza Molla Ali-Nejad; Nasrollah Saleh-Gohari
Journal:  Neurol Sci       Date:  2021-03-26       Impact factor: 3.307

2.  Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.

Authors:  Hui Xiao; Hailan He; Tenghui Wu; Xiaoyuan Ni; Fangyun Liu; Fei Yin; Jing Peng
Journal:  Mol Neurobiol       Date:  2022-06-06       Impact factor: 5.682

3.  Editorial: Novel Mechanisms of Epileptogenesis and Its Inspired Pharmaceutical Treatments for Epilepsy.

Authors:  Antonella Riva; Pasquale Striano
Journal:  Front Neurol       Date:  2022-06-28       Impact factor: 4.086

Review 4.  Unraveling the enigma of new-onset refractory status epilepticus: a systematic review of aetiologies.

Authors:  Simona Lattanzi; Markus Leitinger; Chiara Rocchi; Sergio Salvemini; Sara Matricardi; Francesco Brigo; Stefano Meletti; Eugen Trinka
Journal:  Eur J Neurol       Date:  2021-11-02       Impact factor: 6.288

5.  Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

Authors:  Yan Sun; Fengxia Liu; Chunna Fan; Yaoshen Wang; Lijie Song; Zhonghai Fang; Rui Han; Zhonghua Wang; Xiaodan Wang; Ziying Yang; Zhenpeng Xu; Jiguang Peng; Chaonan Shi; Hongyun Zhang; Wei Dong; Hui Huang; Yun Li; Yanqun Le; Jun Sun; Zhiyu Peng
Journal:  BMC Med Genomics       Date:  2021-04-13       Impact factor: 3.063

6.  Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy.

Authors:  Mostafa Hotait; Maya Dirani; Tarek El Halabi; Ahmad Beydoun
Journal:  Front Genet       Date:  2020-12-03       Impact factor: 4.599

7.  Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

Authors:  Dianalee McKnight; Sara L Bristow; Rebecca M Truty; Ana Morales; Molly Stetler; M Jody Westbrook; Kristina Robinson; Darlene Riethmaier; Felippe Borlot; Marissa Kellogg; Sean T Hwang; Anne Berg; Swaroop Aradhya
Journal:  Neurol Genet       Date:  2021-12-16

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.  Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.

Authors:  Elisabetta Amadori; Marcello Scala; Giulia Sofia Cereda; Maria Stella Vari; Francesca Marchese; Veronica Di Pisa; Maria Margherita Mancardi; Thea Giacomini; Laura Siri; Fabiana Vercellino; Domenico Serino; Alessandro Orsini; Alice Bonuccelli; Irene Bagnasco; Amanda Papa; Carlo Minetti; Duccio Maria Cordelli; Pasquale Striano
Journal:  Ital J Pediatr       Date:  2020-07-06       Impact factor: 3.288

10.  Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Authors:  Jennifer S Jeffrey; Janet Leathem; Chontelle King; Heather C Mefford; Kirsty Ross; Lynette G Sadleir
Journal:  Epilepsia Open       Date:  2021-01-19
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