Review articleDeciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”
Section snippets
Why does the concept of epileptic encephalopathy matter?
Recognition of an epileptic encephalopathy is critical as it suggests that there may be a remediable component with the potential to lead to reversal of developmental slowing, allowing the patient to make developmental gains and show improvement in cognition. The aim of treatment of an epileptic encephalopathy is too suppress epileptiform activity, in order to allow developmental progress. By optimising management for a specific epileptic encephalopathy, the clinician may be able to ameliorate
What are the developmental and epileptic encephalopathies?
The term ‘epileptic encephalopathy’ in the 2010 ILAE classification proposal [1] was modified to ‘developmental and epileptic encephalopathy’ (DEE) in the formal 2017 revision of the classification [13]. This change was made as many of the genes causing epileptic encephalopathies are recognised to independently adversely impact development. This is well illustrated by SCN2A which encodes the alpha 2 subunit of the sodium channel. SCN2A is a well established cause of autism spectrum disorder due
Differentiating a developmental encephalopathy from a developmental and epileptic encephalopathy
A developmental encephalopathy is not the same as a DEE or an epileptic encephalopathy. A developmental encephalopathy refers to developmental delay or intellectual disability, representing a static disability although the degree of disability may become more evident with age. Patients with a developmental encephalopathy have a higher risk of epilepsy than the general population but this does not mean that they have an epileptic encephalopathy. In this population, genetic causes are also
Acknowledgements
This work was supported by Australian National Health and Medical Research Council Program Grant 1091593 and Practitioner Fellowship 1104831.
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