Genetic epileptic encephalopathies of infancy

Epileptic encephalopathies of infancy comprise aheterogeneous group of neurodevelopmental disorders characterized by early epileptic seizures and disorders of motor and cognitive development. The classification into specific epileptic syndromes according to electroclinical criteria does not reflect all of the known infantile epilepsies. In parallel, an increasing number of less well-defined genetic encephalopathies from monogenic causes have been identified. Knowledge of the genetic background enables aclassification of encephalopathies according to pathophysiological cellular causes, can shorten the diagnostic work-up and help in guiding treatment. Because of the low genotype-phenotype correlation between a monogenic disease and an electroclinical syndrome further studies are needed to determine the importance of genetic biomarkers for the treatment and long-term prognosis.