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Molecular mechanisms in Dravet's syndrome

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : Francisco Zafra Gómez

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Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid


Dravet's syndrome (DS) is a type of severe genetic epilepsy which debuts in early childhood. Some 75% of patients present haplo-insufficiency of the SCN1A gene (sub-unit α-1 of sodium channel Nav1.1) which controls the electrical excitability of neurons in which it is expressed (mainly GABA-ergic ones). Numerous studies have clarified the pathology of many mutations of this gene, which affects the characteristics of the ion channel, although many of them may affect intracellular traffic and maturing, and their pathogenic mechanisms have yet to be elucidated. The aim of this project is to identify the traffic routes, and those proteins and regulatory mechanisms which may affect movement of the channel to and from neuronal membranes, in its wild type as well as the aforementioned mutant ones. A genetic study of a cohort of DS patients is also planned. They were studied in the Instituto de Genética Médica y Molecular (IdiPaz) and no genetic cause of their phenotype is known, given that they have no mutations in SCNA1. By using MLPA and direct sequencing other genes involved in the disease will be analysed, such as PCDH19, GABRG2, SCN2A or SCN1B. The project will also work on identifying new genes responsible for the 20% of DS patients with unknown etiology by massive genome analysis (array-CGH and NGS). We expect these studies to make it possible to establish a clearer relationship between the genotype and phenotype, thereby increasing knowledge of the molecular mechanisms of the epileptic state that could be used as the basis for pharmacogenetics and personalised medicine for DS and epilepsies in general.

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