Understanding the genetics of mesial temporal lobe epilepsy with hippocampal sclerosis

Grant round winners 2012

Approximately two thirds of people with epilepsy have seizures successfully controlled with anti-epileptic drugs (AEDs). The remaining third do not respond to AEDs (they are said to have refractory epilepsy (RE)) and for these people, other methods of seizure control must be sought. Brain surgery to remove the seizure origin (the area in which seizures originate) might be an alternative option after a thorough process of selection, and this is successful in about 40% of cases. Studies into the underlying mechanisms of RE and the types of cell directly affected are still ongoing.

Mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE+HS) is the most common type of epilepsy seen in people with RE. The structures affected include the hippocampi and amygdalae (which are important for learning and memory), and significant memory loss and learning impairment are often features of mTLE+HS. The factors that cause and predispose people to mTLE+HS are not understood.

Dr Mar Matarin, at University College London, who will work under the supervision of Professor Matthew Walker, has recently been awarded £249,860, over 36 months, to carry out a fellowship entitled ‘Genetic and molecular basis of mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis‘, in which she will explore the activity (‘expression’) of certain genes in the main cells of both ‘healthy’ and epileptic temporal lobes and hippocampi. Through this, Dr Matarin hopes to gain a better understanding of how these genes normally work and the ways in which their function can be disturbed. She will also try to find out precisely how different types of cell are affected in mTLE+HS.

The results of this project will hopefully increase our understanding of how mTLE+HS and the accompanying memory/learning impairment develop, and why some people do not respond to AEDs. In the longer term, this knowledge will potentially highlight targets for more effective drug treatments, and possibly enable genetic screening to predict who might be susceptible.


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