Resumen

YEPEZ, Isaac; LANDIVAR, Xavier; VINAN-PAUCAR, Linker  y  EGUEZ-MARTINEZ, Sofía. Epileptic And Developmental Encephalopathy Due To SYNGAP1 Mutation: First Case Reported In Ecuador. Rev Ecuat Neurol [online]. 2024, vol.33, n.2, pp.84-91. ISSN 2631-2581.  https://doi.org/10.46997/revecuatneurol33200084.

Epileptic encephalopathy and developmental related to mutations in the SYNGAP1 gene (EED-SYNGAP1) is characterized by psychomotor delay and early-onset epilepsy. We present the first documented case in Ecuador, describing the clinical, electroencephalographic, therapeutic, and evolutionary characteristics of the patient. Genetic diagnosis revealed a de novo nonsense mutation in SYNGAP1. Treatment with valproic acid showed good control of epileptic seizures, although reflex seizures persisted during feeding. This case highlights the importance of genetic studies in the diagnosis of epileptic and developmental encephalopathies.

Palabras clave : Epileptic Encephalopathy; SYNGAP1; Reflex Epilepsy; Neurodevelopmental Disorder; Case Report.