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 orcid logo , José Fernando Gómez Urrego orcid logo , Lina Johanna Moreno Giraldo orcid logo


Article Info

Authors

Maria Alejandra Martinez Vergara

Pediatric Resident, Universidad Libre Seccional Cali, Cali, Colombia

orcid logo ORCID

José Fernando Gómez Urrego

Pediatrics Research Group (GRINPED) Cali, Colombia

orcid logo ORCID

Lina Johanna Moreno Giraldo

Pediatrics Research Group (GRINPED) Cali, Colombia

orcid logo ORCID

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 08, 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 08, 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