Syndrome specific models of epilepsy are the key to understanding the fundamental origins of this disease and to the development of better therapeutic treatments. The goal of this project is to develop genetically modified mouse models of specific human epilepsy syndromes.
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In this project, we created and validated a novel mouse model in which we can temporally control the expression of a human epilepsy mutation. To do this, we used a gene silencing Neomycin resistance cassette which normally suppresses the expression of the mutation, however, with the use of a drug called doxycycline, we can switch on the mutation by in vivo excision of the silencing Neomycin cassette.
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The genetic basis of epilepsy is known to be highly complex. It displays genetic heterogeneity where different genes can cause the same epilepsy phenotype as well as clinical heterogeneity where the same gene can cause different epilepsy phenotypes.
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Clinical data have identified connection of a L1563V mutation in the SCN2A protein (a sodium channel protein) to childhood epilepsy. The SCN2A protein has 2 isoforms, neonatal and adult.
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There is an obvious clinical need for improved therapeutics that will only be realised by a better understanding of epilepsy. A key goal in our understanding of this disease is to define the molecular participants involved in the epileptogenic process and attribute functional consequences to them.
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Harmonious functioning of the brain hinges upon accurate excitatory and inhibitory actions from pyramidal neurons and GABAergic interneurons, respectively. Seizures arise from hyperexcitability of the brain, which may manifest from inadequate GABAergic inhibitory actions.
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