Literature DB >> 28499889

Recent advances in epilepsy genetics.

Alessandro Orsini1, Federico Zara2, Pasquale Striano3.   

Abstract

In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed.
Copyright © 2017 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Epilepsy; Genetics; Monogenic epilepsy; Next-generation sequencing; Precision medicine; Whole-exome sequencing

Mesh:

Year:  2017        PMID: 28499889     DOI: 10.1016/j.neulet.2017.05.014

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  21 in total

1.  Temporal Lobe Epilepsy, Stroke, and Traumatic Brain Injury: Mechanisms of Hyperpolarized, Depolarized, and Flow-Through Ion Channels Utilized as Tri-Coordinate Biomarkers of Electrophysiologic Dysfunction.

Authors:  Gina Sizemore; Brandon Lucke-Wold; Charles Rosen; James W Simpkins; Sanjay Bhatia; Dandan Sun
Journal:  OBM Neurobiol       Date:  2018-06-04

Review 2.  From Genetic Testing to Precision Medicine in Epilepsy.

Authors:  Pasquale Striano; Berge A Minassian
Journal:  Neurotherapeutics       Date:  2020-04       Impact factor: 7.620

Review 3.  The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Authors:  Alessandro Orsini; Angelo Valetto; Veronica Bertini; Mariagrazia Esposito; Niccolò Carli; Berge A Minassian; Alice Bonuccelli; Diego Peroni; Roberto Michelucci; Pasquale Striano
Journal:  Seizure       Date:  2019-08-23       Impact factor: 3.184

4.  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

5.  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

6.  A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.

Authors:  Andre Altmann; Mina Ryten; Martina Di Nunzio; Teresa Ravizza; Daniele Tolomeo; Regina H Reynolds; Alyma Somani; Marco Bacigaluppi; Valentina Iori; Edoardo Micotti; Rossella Di Sapia; Milica Cerovic; Eleonora Palma; Gabriele Ruffolo; Juan A Botía; Julie Absil; Saud Alhusaini; Marina K M Alvim; Pia Auvinen; Nuria Bargallo; Emanuele Bartolini; Benjamin Bender; Felipe P G Bergo; Tauana Bernardes; Andrea Bernasconi; Neda Bernasconi; Boris C Bernhardt; Karen Blackmon; Barbara Braga; Maria Eugenia Caligiuri; Anna Calvo; Chad Carlson; Sarah J A Carr; Gianpiero L Cavalleri; Fernando Cendes; Jian Chen; Shuai Chen; Andrea Cherubini; Luis Concha; Philippe David; Norman Delanty; Chantal Depondt; Orrin Devinsky; Colin P Doherty; Martin Domin; Niels K Focke; Sonya Foley; Wendy Franca; Antonio Gambardella; Renzo Guerrini; Khalid Hamandi; Derrek P Hibar; Dmitry Isaev; Graeme D Jackson; Neda Jahanshad; Reetta Kälviäinen; Simon S Keller; Peter Kochunov; Raviteja Kotikalapudi; Magdalena A Kowalczyk; Ruben Kuzniecky; Patrick Kwan; Angelo Labate; Soenke Langner; Matteo Lenge; Min Liu; Pascal Martin; Mario Mascalchi; Stefano Meletti; Marcia E Morita-Sherman; Terence J O'Brien; Jose C Pariente; Mark P Richardson; Raul Rodriguez-Cruces; Christian Rummel; Taavi Saavalainen; Mira K Semmelroch; Mariasavina Severino; Pasquale Striano; Thomas Thesen; Rhys H Thomas; Manuela Tondelli; Domenico Tortora; Anna Elisabetta Vaudano; Lucy Vivash; Felix von Podewils; Jan Wagner; Bernd Weber; Roland Wiest; Clarissa L Yasuda; Guohao Zhang; Junsong Zhang; Costin Leu; Andreja Avbersek; Maria Thom; Christopher D Whelan; Paul Thompson; Carrie R McDonald; Annamaria Vezzani; Sanjay M Sisodiya
Journal:  Neuropathol Appl Neurobiol       Date:  2021-09-05       Impact factor: 8.090

7.  Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority.

Authors:  Altynshash Jaxybayeva; Alissa Nauryzbayeva; Assem Khamzina; Meruert Takhanova; Assel Abilhadirova; Anastasia Rybalko; Kymbat Jamanbekova
Journal:  Front Neurol       Date:  2021-06-10       Impact factor: 4.003

8.  Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy.

Authors:  Pasquale Striano; Carlo Nobile
Journal:  Neurol Genet       Date:  2018-06-11

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.  Novel and de novo mutations in pediatric refractory epilepsy.

Authors:  Jing Liu; Lili Tong; Shuangshuang Song; Yue Niu; Jun Li; Xiu Wu; Jie Zhang; Clement C Zai; Fang Luo; Jian Wu; Haiyin Li; Albert H C Wong; Ruopeng Sun; Fang Liu; Baomin Li
Journal:  Mol Brain       Date:  2018-09-05       Impact factor: 4.041

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