Understanding childhood epilepsy: from bedside to bench and back again

30 May 2006

Professor Ingrid Scheffer
Chair, Paediatric Neurology Research
Department of Medicine & Paediatrics
Epilepsy Research Centre
Austin Health & Royal Children's Hospital

Over the last fifteen years, our clinical and molecular genetics research has revolutionised the understanding of the genetics of epilepsy. This lecture will take you on a journey of discovery based on meticulous clinical research in collaboration with bench scientists.

Unusual thrashing attacks in sleep in many members of a family led to the description of a new inherited epilepsy syndrome, autosomal dominant nocturnal frontal lobe epilepsy, in which the first gene for epilepsy was discovered, a gene encoding a nictonic receptor subunit.

The most important of a number of new epilepsy syndromes recognised through study of large families is generalised epilepsy with febrile seizures plus. This familial epilepsy syndrome links generalised epilepsies and febrile convulsions occurring in different members of a family and is now associated with mutations of four genes. This disorder is also associated with a devastating epilepsy beginning in infancy called Dravet syndrome. Insights into the sodium channel gene causing Dravet syndrome have completely reshaped our understanding of a variety of epilepsies beginning in infancy, including a disorder erroneously attributed to vaccination.

The discovery of epilepsy genes has meant that the epilepsies are now regarded as disorders of ion channels. Solving the molecular basis of the epilepsies will undoubtedly lead to improvements in the outcome of these debilitating disorders.

Read Professor Scheffer's presentation (edited) [Large file PDF 956k ]

Listen to Professor Scheffer's iLecture.

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