Genetic epileptic channelopathies as disease models for drug discovery toward personalized treatment: an integrated bench-to-bedside and backward approach (DSB.AD004.246)
Thematic area
Project area
Neuroscienze (DSB.AD004)Structure responsible for the research project
Istituto per la Ricerca e l'Innovazione Biomedica (IRIB)
Other structures collaborating in the research project
Project manager
GRAZIA ANNESI
Phone number: 09613695935
Email: grazia.annesi@cnr.it
Abstract
Ion channels are critical regulators of several, often interdependent, functions such as tissue growth and development, cell migration, differentiation and motility, and overall excitability. In the last two decades, an ever-growing number of sequencing techniques of increasing sensitivity and capacity are providing detailed catalogs of genomic variants in ion channel genes in patients affected with various neurological diseases including epilepsy, migraine,ataxia, and pain. These studies have revealed that a large fraction of genetically-determined neurological diseases are in fact channelopathies, broadly defined as diseases caused by mutations in ion channel genes. In these diseases, currently-available therapeutic options are mostly symptomatic, often restricted by safety and efficacy pitfalls. For epilepsy, genomic approaches have also led to rational treatment strategies to reverse or circumvent the disease-causing molecular defect, opening the field of personalized/precision treatment. Currently established or investigated precision medicine treatments in rare Mendelian genetic epilepsies already include the ketogenic diet in patients with GLUT1 deficiency, sodium channel b
Start date of activity
25/09/2019
Keywords
developmental neurobiology, electrophsyology, neuropharmacology precision medicine
Last update: 14/02/2025