Dados do Trabalho

Título

GENE PANELS AS AN IMPORTANT TOOL FOR THE DIAGNOSIS OF EPILEPSY

Introdução

Introduction: The etiological diagnosis of epilepsies can be quite challenging. Even after a thorough diagnostic evaluation, many patients have epilepsy of unknown aetiology. However, some of these patients should have genetic variants of probable or definitive etiologic significance. The investigation of these cases can be complex since genetic epilepsy can be related to a significant number of genes. The genetic heterogeneity and the variable phenotypic overlap in severe epilepsies beginning in infancy and early childhood make gene panel analysis an essential diagnostic tool.

Objetivo

Objective:This study aims to analyze the use of gene panels in genetic epilepsy diagnosis at a public hospital.

Método

Methods: We analyzed a database of patients submitted to a panel of epilepsies and movement disorders between 2018 and 2022.

Resultados

Results: We analyzed the information from 176 patients. Sixty-eight patients were submitted to the epilepsy panel. Among these patients, there were 26 positive results (38%). In addition, we diagnosed cases of lipofuscinosis (one type 8, one type 7 and two cases of type 6), infantile neuroaxonal dystrophy (2 cases plus one patient with two variants in heterozygosity in PLA2G6 gene), glucose transporter type 1 deficiency syndrome (2 cases), cerebral creatine deficiency syndrome 2, primary coenzyme Q10 deficiency-4 and developmental and epileptic encephalopathy 4 and 11. We also found mutations in the following genes related to epilepsy: SYNGAP1, GRIN1, PCDH19, SCN1A (2 cases), SCN2A, SCN8A, BRAT1, GNAO1, KCNT1, CACN1A and ITPR1.

The other 108 patients who had movement disorders and epilepsy as comorbidity and did not fulfil the criteria for an epilepsy panel were submitted to a specific movement disorders panel. There were 17 positive results (15%) that diagnosed cases of pyridoxine dependent epilepsy, developmental and epileptic encephalopathy 2, alternating hemiplegia of childhood, Segawa dystonia, aromatic L-aminoacid decarboxylase deficiency, neurodevelopmental disorder with involuntary movements, Rett Syndrome,15 q11-q13 duplication syndrome. In addition, we also found mutations in the following genes related to epilepsy: ACTL6B, WDR45 (2 cases), IRF2BPL, TBC1D24 and CACN1A (2 cases).

Conclusão

Conclusion: The genetic panels are an essential ally to propaedeutics in epilepsy. It provides patients with accurate diagnoses and therapeutic guidance and enables genetic counselling to families.

Palavras-chave

genetic panels
Epilepsy