Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway

ABSTRACT:

Introduction

Developmental and epileptic encephalopathies (DEE) is a group of epilepsies where the epileptic activity, seizures and the underlying neurobiology contributes to cognitive and behavioral impairments. Uncovering the causes of DEE is important in order to develop guidelines for treatment and follow-up. The aim of the present study was to describe the clinical picture and to identify genetic causes in a patient cohort with DEE without known etiology, from a Norwegian regional hospital.

Methods

Systematic searches of medical records were performed at Drammen Hospital, Vestre Viken Health Trust, to identify patients with epilepsy in the period 1999–2018. Medical records were reviewed to identify patients with DEE of unknown cause. In 2018, patients were also recru

SUBMITTER: Stenshorne I 

PROVIDER: S-EPMC9376386 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature