Dados do Trabalho

Título

PHENOTYPE AND GENOTYPE CORRELATION OF CHILDREN WITH DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY IN A REFERENCE CENTER

Introdução

: Developmental and Epileptic Encephalopathies (DEE) are a group of severe epilepsies from genetic etiology, which have an early onset seizures, characterized by the presence of difficult to control seizures associated with delay or regression neurodevelopmental. They present a variety of genotypes and phenotypes, and their diagnosis and treatment are a challenge.

Objetivo

To describe the correlation between the phenotypes and the genotypes of children diagnosed with DEE assisted at a reference center in the state.

Método

: This is a cross-sectional, observational, descriptive study carried out based on a review of medical records from the Neurogenetics outpatient clinic, linked to the Medical Genetics Service. This study was approved by the Research and Ethics Committee, in 2023.

Resultados

Twenty patient records were evaluated, ranging in age from 2 to 20 years. The patients are mostly from the state of Bahia. There was an equal distribution between genders, with 10 male patients and 10 female patients. Epileptic crisis were more common than neurodevelopmental delay or regression as the first symptom. The generalized tonic-clonic seizure type is predominant, being present in more than half of the cases, while the others appear once or twice. Among the associated manifestations, hypotonia was a relevant symptom, appearing in 75% of cases. Two patients had a common mutation in the SCN1A gene and four other patients in the MECP2 gene, while the others had variants in different genes. Eleven patients underwent imaging tests, seven of which had a normal pattern, and among the findings on brain MRI there was a change in signal in T2/FLAIR of white matter (3) and juxtacortical junction (1).Most patients required more than one anticonvulsants, while a smaller proportion did not achieve significant improvement or cessation of seizures.

Conclusão

The phenotype-genotype relationship is still somewhat limiting, however, this has been changing along with advances in the genetic test. The phenotype-genotype relationship is still somewhat limiting, with similar phenotypes. However, this has been changing with advances in the field of genetics. Finally, studies that include a larger analysis, where greater correlations can be established, are necessary to better understand this disease and, thus, offer a better quality of life for patients and their families.

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Palavras Chave

Developmental and epileptic encephalopathy; epilepsy; Genetic