Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/22459
Title: Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".
Austin Authors: Scheffer, Ingrid E ;Liao, Jianxiang
Affiliation: Department of Medicine and Paediatrics, The University of Melbourne and Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatrics, Austin Health, Heidelberg, Victoria, Australia
Epilepsy Center, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China
Issue Date: Jan-2020
metadata.dc.date: 2019-12-31
Publication information: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020;24: 11-14
Abstract: The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to understanding the most severe group of epilepsies. An epileptic encephalopathy is defined by the presence of frequent epileptiform activity that impacts adversely on development, typically causing slowing or regression of developmental skills, and usually associated with frequent seizures. Many of the epileptic encephalopathies are now known to have an identifiable molecular genetic basis. The term 'developmental' was introduced as there are multiple facets leading to developmental impairment in affected individuals. The underlying genetic cause often results in developmental delay in its own right, with the epileptic encephalopathy further adversely affecting development. Treatment of the epileptic encephalopathy may improve developmental progress, so early recognition and active management are essential to improve developmental outcomes. Equally, understanding that the genetic aetiology independently leads to developmental impairment means that precision therapies need to be holistic in addressing the devastating consequences of this group of diseases.
URI: http://ahro.austin.org.au/austinjspui/handle/1/22459
DOI: 10.1016/j.ejpn.2019.12.023
ORCID: 0000-0002-2311-2174
PubMed URL: 31926847
Type: Journal Article
Subjects: Developmental and epileptic encephalopathy
Developmental encephalopathy
Epilepsy syndrome
Epileptic encephalopathy
Regression
Appears in Collections:Journal articles

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