Developmental and Epileptic Encephalopathies: big problems in small children
Epilepsy is the most common serious neurological illness of children and young people. It is a group of disorders with varying outcomes organised into syndromes defined by age of onset, type of seizures, EEG features and comorbidities.
The developmental and epileptic encephalopathies (DEE) are the most devastating childhood epilepsy syndromes in which seizures and interictal electrographic epileptic activity contribute to severe cognitive and behavioural deterioration beyond what is expected for the underlying pathology alone. Mortality in these children is 25% by 20 years of age and those who survive have significant lifelong disabilities.
Although individual epileptic encephalopathy syndromes may be rare, as a group the epileptic encephalopathies are not uncommon (1 in 2000 births) and account for a significant proportion of health resource allocation.
The discovery of de novo mutations in SCN1A in 80% of children with a specific type of DEE was paradigm shifting in our understanding of the aetiology of the epileptic encephalopathies which, prior to 2001, were thought to be acquired.
We are now able to make a clinical genetic diagnosis in ~40% of individuals with these catastrophic disorders. Ongoing research using sophisticated phenotyping and novel molecular genetic strategies are also progressing the goal of precision medicine for these children.
|Date||Friday, 23 August 2019|
|Time||1:00pm - 2:00pm|
|Event Category||Health Sciences|
|Location||D'ath Lecture Theatre, Hercus Building|
|Contact Name||Dr Euan Rodger|