Amanda Almacellas, PhD, University College London, London, UK, shares an overview of her work investigating KCNA1 gene therapy as a novel treatment approach for focal cortical dysplasia (FCD) type II. FCDs are the most common causes of medically refractory epilepsy in children. FCD type II, a more severe form of cortical dysplasia, is the most common pathology found in pediatric epilepsy surgery. There is a substantial need for new treatments in this space, as resective surgery is not always effective and often precluded by the location of the malformation. Dr Almacellas has therefore been working on developing a gene therapy for FCD type II. The AAV-vector based approach delivers copies of a modified KCNA1 gene, which encodes potassium channel Kv1.1 and is downregulated by mTOR hyperactivation in FCD type II. The therapy was then tested in a mouse model shown to recapitulate the FCD pathology seen in humans, which resulted in a 64% reduction in seizure frequency over 4 weeks and no worsening of performance in tests of frontal lobe function. This interview took place at The BNA 2023 International Festival of Neuroscience in Brighton, UK.

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