Paediatric Epilepsy, Autism & Mental Retardation Group

Head: Prof Ingrid Scheffer Director, Childrens' Epilepsy Program Department of Medicine (AH/NH) University of Melbourne [p]: +61-3-9035-7112 [f]: +61-3-9496-2291 [e]: i.scheffer@unimelb.edu.au

Research Focus

Epilepsy is a group of disorders that predominantly begin in early childhood and adolescence. We are interested in understanding the genetics that underlie paediatric epilepsy syndromes.  This is seamlessly integrated with the Clinical Epilepsy Genetics group.  In some individuals, or rarely in families, structural abnormalities of the brain, mental retardation and speech and language disorders may occur with seizures. We are working to understand the potential connection of these disorders with the epilepsy disorders.

Autism spectrum disorder (ASD), like other common disorders such as epilepsy, asthma and hypertension, follow complex inheritance due to a combination of genetic factors with or without an environmental contribution. The search for genetic loci and genes involved in ASD has largely relied on sib-pair and candidate gene studies. These methods have identified more than 20 chromosomal loci for ASD.We are particularly interested in studying large families with autism spectrum disorders.

Personnel

• Prof. Ingrid Scheffer, Director of Paediatrics
• Dr Natasha Brown, Paediatric Fellow, PhD student
• See also Clinical Epilepsy Genetics staff

Techniques Used

• High level clinical phenotyping and identification of epilepsy syndromes.
• Clinical genetic analyses.
• Development of endophenotypes for identification of traits for genetic analysis (eg, photosensitivity).
• Imaging
• Use of clinical investigations to aid in the characterization of phenotypes including high level imaging techniques (MRI and PET), neuropsychological evaluation, electrophysiological analyses.

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