Recent advances in epilepsy genetics

Neuroscience Letters
Alessandro OrsiniPasquale Striano

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.

Citations

Dec 1, 2017·PloS One·Laura Ortega-MorenoUNKNOWN Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)
Jan 14, 2018·European Journal of Human Genetics : EJHG·Xia LiQing Kenneth Wang
Apr 13, 2019·JAMA Network Open·Jorune BalciunieneAhmad Abou Tayoun
Dec 14, 2019·Neurogenetics·Simona PellacaniFilippo Maria Santorelli
Jan 26, 2020·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Pasquale Striano, Berge A Minassian
Jan 17, 2020·Expert Review of Neurotherapeutics·Marcello ScalaPasquale Striano
Dec 14, 2018·Epilepsia·Francesca M Snoeijen-SchouwenaarsMarjolein H Willemsen
Dec 11, 2019·Epilepsia Open·Maurits W C B SandersUNKNOWN Dutch Collaborative Epilepsy Surgery Program (LWEC)
Mar 24, 2020·F1000Research·Malavika Hebbar, Heather C Mefford
Oct 6, 2020·Frontiers in Pharmacology·Luis Felipe Santos MenezesElisabeth Ferroni Schwartz
Sep 7, 2018·Molecular Brain·Jing LiuBaomin Li
Nov 12, 2020·Seminars in Neurology·David M Ritter, Katherine Holland
Aug 12, 2019·Epilepsy & Behavior : E&B·Pedro H M MagalhãesIscia Lopes-Cendes
Feb 2, 2021·Frontiers in Neurology·Celina von StülpnagelUNKNOWN NETRE Consortium
Nov 20, 2019·Seizure : the Journal of the British Epilepsy Association·Niccolò CarliPasquale Striano
Jun 29, 2021·Frontiers in Neurology·Altynshash JaxybayevaKymbat Jamanbekova
Aug 14, 2021·Neuropathology and Applied Neurobiology·Andre AltmannSanjay M Sisodiya

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