Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1

Infantile epileptic encephalopathy in a colombian child with a pathogenic de novo STXBP1 gene variant

El desarrollo de los estudios moleculares ha permitido identificar la etiología genética de diversas enfermedades como   las encefalopatías epilépticas infantiles, las cuales se han asociado con variantes patogénicas en diferentes genes, entre   ellos el STXBP1. La encefalopatía con epilepsia STXBP1 es una enfermedad genética con un patrón de herencia autosómico dominante, donde están alterados los mecanismos reguladores de la liberación de neurotransmisores por parte de las vesículas sinápticas, con alteración del neurodesarrollo. La edad de presentación del trastorno es temprano, con convulsiones en los primeros dos meses de vida. Los pacientes presentan dificultades en la alimentación, trastornos del movimiento y alteración del espectro autista. En este artículo presentamos el caso clínico de un paciente colombiano con encefalopatía epiléptica STXBP1 revisando los aspectos clínicos de la enfermedad, dirigido a profesionales de la salud para sensibilizarlos y así lograr el diagnóstico temprano. Esta es la primera publicación en el país de un paciente con esta etiología.

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