Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies.

ABSTRACT: The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies. They usually begin in infancy or childhood with drug-resistant seizures, epileptiform EEG patterns, developmental slowing or regression, and cognitive impairment. DEEs have a high mortality and profound morbidity; comorbidities are common including autism spectrum disorders. With advances in genetic sequencing, over 400 genes have been implicated in DEEs, with a genetic cause now identified in over 50% patients. Each genetic DEE typically has a broad genotypic-phenotypic spectrum, based on the underlying pathophysiology. There is a pressing need to improve health outcomes by developing novel targeted therapies for specific genetic DEE phenotypes that not only improve seizure control, but also d

SUBMITTER: Palmer EE 

PROVIDER: S-EPMC8608984 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature