Developmental and epileptic encephalopathy 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.
Encefalopatía epiléptica
Encefalopatía Epiléptica y del Neurodesarrollo por Mutación en SYNGAP1: Primer Caso Reportado en Ecuador. Developmental and Epileptic Encephalopathy due to SYNGAP1 Mutation: First Case Reported in Ecuador.
Palabras clave: Caso Clínico,
Encefalopatía epiléptica,
Epilepsia Refleja,
SYNGAP1,
Trastorno del Neurodesarrollo,
Canalopatía de calcio CACNA1E: Nueva encefalopatía epiléptica en un paciente pediátrico. CACNA1E calcium channelopathy: New epileptic encephalopathy in a pediatric patient
Introduction: Epileptic and developmental encephalopathies, related to voltage-associated calcium channel mutations, are heterogeneous entities recently described in pediatric population.
Objective: To describe the case of pediatric patient with epileptic and developmental encephalopathy caused by a mutation in the CACNA1E gene that codes for a calcium channel.
Clinical case: Preschool male patient with refractory epilepsy starting at two months of life, associated with global developmental delay, behavioral disorder, hyperkinetic movements (dystonia) and hypotonia, with multifocal interictal activity and normal brain resonance, with pathogenic mutation in the gene CACNA1E.
Conclusion: Mutations in the CACNA1E gene cause functional alteration of the calcium channel CaV2.3, originating a clinical picture of a recently described phenotype.
