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Topic: Cre recombinase

Seminar
1 seminar

In Biology and Clinical Neurology

Seminar · Neuroscience

Towards targeted therapies for the treatment of Dravet Syndrome

Gaia Colasante · Ospedale San Raffaele

Wed, May 19, 2021 · 16:00 UTC

Dravet syndrome is a severe epileptic encephalopathy that begins during the first year of life and leads to severe cognitive and social interaction deficits. It is mostly caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes for the alpha-subunit of the voltage-gated sodium channel (Nav1.1) and is responsible mainly of GABAergic interneuron excitability. While different therapies based on the upregulation of the healthy allele of the gene are being developed, the dynamics of reversibility of the pathology are still unclear. In fact, whether and to which extent the