AUTHOR=Bertocchi Ilaria , Cambiaghi Marco , Hasan Mazahir T. 

TITLE=Advances toward precision therapeutics for developmental and epileptic encephalopathies

JOURNAL=Frontiers in Neuroscience

VOLUME=Volume 17 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2023.1140679

DOI=10.3389/fnins.2023.1140679

ISSN=1662-453X

ABSTRACT=Developmental and epileptic encephalopathies are childhood syndromes of severe epilepsy associated with cognitive and behavioral impairment. Epileptic seizures represent only a part, although substantial, of the clinical spectrum, and whether the epileptiform activity per se accounts for developmental and intellectual disabilities is still unclear. In a few cases, seizures can be alleviated by antiepileptic drugs. However, the major comorbid features associated remain, including psychiatric disorders such as autism-like and attention deficit hyperactivity disorder-like behavior. The number of genes known to be involved is continuously growing, and genetically engineered rodent models are valuable tools for investigating the impact of gene mutations on local and distributed brain circuits. Despite the inconsistencies and problems that arise in the generation and validation of the different preclinical models, those are unique and precious tools to identify new molecular targets and essential to provide prospects for effective therapeutics.