Abstracts
Solving the puzzle of seizures in newborns
Sarah Heron
PhD student, University of Adelaide, Discipline of Paediatrics
Supervised through Genetic Medicine, CYWHS
Benign familial neonatal seizures is a genetic form of epilepsy in babies. It is caused by defects in the proteins which transport potassium ions in the brain and nerves. In many patients the change in the DNA leading to the defective protein has been identified, but in some it has not. I applied a newly developed technology, called MLPA, to study patients in whom we had not previously been able to find the defect. MLPA allows the detection of missing or extra pieces of DNA in a particular gene which could not be detected with the methods used in the past. I found this new type of mutation for this gene in five of the patients I studied. This confirms the diagnosis and is likely to be very useful in future in a significant number of cases with this particular form of epilepsy.
