Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes

Developmental and epileptic encephalopathies (DEEs) comprise a group of rare neurodevelopmental disorders that are characterized by early-onset, frequent, refractory seizures associated with significant developmental delay or impairment in developmental skills [1]. Unfortunately, comorbidities are frequently associated with DEEs, including autism spectrum disorder, attention deficit hyperactivity disorder, and behavioral and movement disorders [2]. West Syndrome, Lennox- Gastaut syndrome, and Ohtahara syndrome are the most common types of DEEs which show almost specific distinct phenotypes, however, a considerable number of patients do not have phenotypes that fit into specific DEE disorders.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research