Reference:
Armstrong
Abstract:
Determine the pathogenicity of the mutations and polymorphisms detected in genes MECP2, CDKL5, FOXG1, NTNG1 i BDNF responsible for RTT in all patients clinically diagnosed as RTT and determine the clinical expression in patients (genotype-phenotype correlation). Objectives: – To study the genotype of patients with RTT you have not found a point mutation in exons 3 and 4, or large gene MECP2 gene rearrangement. Search for mutations in CDKL5 and FOXG1 genes in atypical RTT variant with early epilepsy and congenital form respectively – To study the phenotype of patients with the items listed in the database used specifically for the RTT; define its (classical or variant) clinically determine the clinical severity using our check-list of disability – To correlate phenotype to genotype in order to offer a forecast clinical and family and prenatal advice.
PROJECT DETAILS
beginning: 2010.
end: 2012.
Country of research: Spain
Counry of funding source: Spain
Funding organization: Fondo Biorett
Financing: PRIVATE FUNDERS – 310 844 €