Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.
DeNovo
childhood and adolescence
developmental and epileptic encephalopathy (DEE)
epilepsy
epileptic encephalopathy
monogenic (Mendelian) PGx traits
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
09
06
2022
accepted:
07
07
2022
entrez:
18
8
2022
pubmed:
19
8
2022
medline:
19
8
2022
Statut:
epublish
Résumé
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. 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 recruited consecutively from treating physicians. All patients underwent thorough clinical evaluation and updated genetic diagnostic analyses. Fifty-five of 2,225 patients with epilepsy had DEE of unknown etiology. Disease-causing genetic variants were found in 15/33 (45%) included patients. Three had potentially treatable metabolic disorders ( The results from this study illustrate the importance of performing updated genetic investigations and/or analyses in patients with DEE of unknown etiology. A genetic cause was identified in 45% of the patients, and three of these patients had potentially treatable conditions where available targeted therapy may improve patient outcome.
Identifiants
pubmed: 35979408
doi: 10.3389/fped.2022.965282
pmc: PMC9376386
doi:
Types de publication
Journal Article
Langues
eng
Pagination
965282Informations de copyright
Copyright © 2022 Stenshorne, Syvertsen, Ramm-Pettersen, Henning, Weatherup, Bjørnstad, Brüggemann, Spetalen, Selmer and Koht.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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