Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

ABSTRACT: The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs). Genetic heterogeneity is seen in many epilepsy syndromes such as West syndrome and epilepsy of infancy with migrating focal seizures (EIMFS), indicating that two or more genetic loci produce the same or similar phenotypes. At the same time, some genes such as SCN2A can be asso

SUBMITTER: Bayat A 

PROVIDER: S-EPMC8307222 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature