Case Report
Volume: 8 | Issue: 1 | Published: Jun 22, 2025 | Pages: 055 - 060 | DOI: 10.24911/JBCGenetics.11-2231
Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report
Authors:
Maria Alejandra Martinez Vergara
, José Fernando Gómez Urrego
, Lina Johanna Moreno Giraldo
Article Info
Authors
Maria Alejandra Martinez Vergara
Pediatric Resident, Universidad Libre Seccional Cali, Cali, Colombia
Publication History
Received: May 29, 2025
Accepted: June 16, 2025
Published: June 22, 2025
Abstract
Background: Developmental and epileptic encephalopathies (DEEs) are severe disorders marked by refractory seizures and developmental delay. Pathogenic variants in the syntaxin-binding protein 1 (STXBP1) gene are among the top five genetic causes of DEE and impair neurotransmitter release, especially in GABAergic interneurons. The clinical presentation is highly variable, and diagnosis depends on molecular genetic testing. Precision medicine is key for diagnosis, treatment, follow-up, prognosis, and hereditary risk reduction.
Case Presentation: We present a male patient with drug-resistant epilepsy, polypharmacy, and cognitive impairment, without significant family or perinatal risk factors. Given the clinical complexity and strong suspicion of genetic cause, a molecular study using next-generation sequencing of epilepsy-related genes and copy number variation analysis was performed. A heterozygous pathogenic variant in STXBP1, c.1652G>A (p.Arg551His), was identified, associated with early infantile epileptic encephalopathy type type 4, also known as STXBP1-DEE (MONDO:0012812 - orphanet identifier (ORPHA):599373], with autosomal dominant inheritance.
Conclusion: STXBP1-DEE represents a heterogeneous spectrum of neurodevelopmental disorders with refractory epilepsy, developmental delay, and intellectual disability. Diagnosis requires clinical suspicion, imaging, laboratory tests, and molecular confirmation. While current treatments are limited, promising approaches are under investigation. The lack of genotype-phenotype correlation and wide phenotypic variability complicate management, but advances in precision medicine support more individualized treatment strategies. Although most variants are de novo, genetic counseling remains crucial to assess recurrence risk. Preclinical studies show potential for novel therapies, yet clinical trials are needed to confirm their efficacy in affected individuals.
Keywords: Developmental and Epileptic Encephalopathies, STXBP1 gene, drug-resistant epilepsy, de novo variants, gene therapy, precision medicine, case report.
Pubmed Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo. Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report. JBC Genetics. 2025; 22 (June 2025): 055-060. doi:10.24911/JBCGenetics.11-2231
Web Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo. Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report. https://jbcgenetics.com/articles/2231 [Access: August 28, 2025]. doi:10.24911/JBCGenetics.11-2231
AMA (American Medical Association) Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo. Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report. JBC Genetics. 2025; 22 (June 2025): 055-060. doi:10.24911/JBCGenetics.11-2231
Vancouver/ICMJE Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo. Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report. JBC Genetics. (2025), [cited August 28, 2025]; 22 (June 2025): 055-060. doi:10.24911/JBCGenetics.11-2231
Harvard Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo (2025) Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report. JBC Genetics, 22 (June 2025): 055-060. doi:10.24911/JBCGenetics.11-2231
Chicago Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo. "Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report." 22 (2025), 055-060. doi:10.24911/JBCGenetics.11-2231
MLA (The Modern Language Association) Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo. "Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report." 22.June 2025 (2025), 055-060. Print. doi:10.24911/JBCGenetics.11-2231
APA (American Psychological Association) Style
Maria Alejandra Martinez Vergara, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo (2025) Diagnosis of developmental and epileptic encephalopathies in the era of precision medicine - a case report. , 22 (June 2025), 055-060. doi:10.24911/JBCGenetics.11-2231