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Professor of Paediatric Neurology, Departments of Medicine and Paediatrics, The University of Melbourne, Austin and Royal Children's Hospital, Senior Principal Research Fellow, Florey Neuroscience Institutes, and Director of Paediatrics, Austin Health, Melbourne, Australia.
With the burgeoning array of molecular tests available in the epilepsies, the clinician needs to know which tests to order for each patient. Epileptic encephalopathies are the most important clinical group for genetic testing with an increasing number of distinctive epilepsy syndromes being recognized. Identification of the causative mutation affects treatment as well as prognostic and genetic counseling.
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