Investigating a polygenic effect in genomic data of patients with childhood epilep...
| Grant number: | 15/07868-1 |
| Support type: | Scholarships in Brazil - Scientific Initiation |
| Effective date (Start): | August 01, 2015 |
| Effective date (End): | July 31, 2016 |
| Field of knowledge: | Health Sciences - Medicine |
| Principal Investigator: | Marilisa Mantovani Guerreiro |
| Grantee: | Catharina Maria Seixas |
| Home Institution: | Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil |
| Associated research grant: | 13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology, AP.CEPID |
Abstract Epileptic encephalopathy is the entity in which the epileptic activity by itself may contribute to bad results, both in terms of epilepsy as in terms of serious cognitive and behavioral impairment. Understanding the different phenotypes in patients with epileptic encephalopathies is helpful to characterize genetic defects that can be associated, being fundamental to conduct clinical studies to facilitate the early diagnosis, treatment and improvement of the patients' prognosis. The aim of this study is to describe and detail the clinical pictures of various epileptic encephalopathies, defining its characteristics, variations and peculiarities in each patient, since a considerable number of patients cannot be classified in the manner described as yet. There will be included patients with clinical and electroencephalographic epileptic encephalopathy followed up at the Hospital of UNICAMP. Patients or their caregivers will be interviewed based on a data collection form about their medical history. An analysis of the records of the selected patients will also be held. The data will be cataloged and the results presented descriptively. | |