Mutación en el gen SCN9A asociado con el síndrome de Dravet: presentación de un caso pediátrico

Translated title of the contribution: Mutation in the SCN9A Gene Associated with Dravet Syndrome: A Pediatric Case Report

José Miguel Suescún-Vargas, Daniela Ayala-Olaya, Javier Yesid Pinzón-Salamanca

Research output: Contribution to journalResearch Articlepeer-review


Introduction: Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a drug resistant epileptic encephalopathy that usually begins in the first year of life. It is characterized by the presence of epileptic seizures that usually have multiple triggers; the most currently associated is the presence of previous febrile episodes. It is considered as a rare disease due to its low incidence and prevalence. Case presentation: We reported the case of a ten-year-old boy with structural epilepsy associated with a neuro-developmental delay and minor craniofacial anomalies. He had a history of uncorrected congenital heart disease, colpocephaly, and agenesis of the corpus callosum. Due to the persistence of seizures secondary to drug resistance, it was decided to perform a genetic exome that evidenced a mutation of the SCN9A gene. Conclusions: Dravet syndrome should be suspected in all patients under one year of age who have recurrent seizures associated with fever that does not respond to medication and modifies its presentation. Approximately 70%−85% of the patients diagnosed with Dravet syndrome have a mutation in the SCN1A gene; therefore, mutations in other genes that encode sodium channels located on the same chromosome, such as SCN9A, could contribute in a multifactorial way.

Translated title of the contributionMutation in the SCN9A Gene Associated with Dravet Syndrome: A Pediatric Case Report
Original languageSpanish (Colombia)
Pages (from-to)1-9
Number of pages9
JournalRevista ciencias de la salud
Issue number1
StatePublished - Feb 11 2022

All Science Journal Classification (ASJC) codes

  • Medicine (miscellaneous)
  • Health(social science)


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