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Developmental and Epileptic Encephalopathies: Big problems in small children

Professor Lynette Sadleir, Department of Paediatrics and Child Health,Otago Medical School, University of Otago Wellington

Lynette Sadleir joined the Department of Paediatrics and Child Health, University of Otago, Wellington in 1999 following an Epilepsy Fellowship at British Columbia’s Children’s Hospital. In her clinical role as a paediatric epileptologist, she diagnoses and manages children with epilepsy. She is a physician scientist with expertise in epilepsy phenotyping and epilepsy genetics. She is the Director of the Epilepsy Research Group at the University of Otago, Wellington. The Epilepsy Research Group is committed to improving the quality of life for individuals with epilepsy and their families. Her main research focus is identifying new and defining emerging epilepsy syndromes and finding their genetic causes. Over 1600 New Zealanders are participants in her epilepsy genetics project. Professor Sadleir is the president of the New Zealand League Against Epilepsy. She is presently the chair of the International League Against Epilepsy Budget Review Committee and a member of the International League Against Epilepsy Clinical Genetic Testing in the Epilepsies Task Force.

Epilepsy is the most common serious neurological illness of children and young people. It is a groupof disorders with varying outcomes organised into syndromes defined by age of onset, type ofseizures, 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 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 Monday, 4 March 2019
Time 12:00pm - 1:00pm
Audience Public
Event Category Sciences
Event Type Seminar
Public Lecture
LocationWilliam James Seminar Room 103, William James Building, 275 Leith Walk, Otago Campus
Contact NameJoanna Ling
Contact Phone+64 3 479 7631

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