[Triogenome sequencing in neonatal epilepsy].

Area of Science:

• Neonatal Medicine
• Clinical Genetics
• Neurology

Background:

• Severely ill newborns with unexplained symptoms present significant clinical challenges.
• Diagnosing rare genetic disorders in neonates requires advanced molecular techniques.
• Epilepsy in newborns can be difficult to manage and treat effectively.

Purpose of the Study:

• To report a case of severe neonatal seizures of unknown origin.
• To demonstrate the utility of rapid trio-genome sequencing in diagnosing rare genetic conditions.
• To highlight the importance of targeted genetic therapy for improved neonatal outcomes.

Main Methods:

• Clinical presentation of a newborn with severe, drug-resistant seizures.
• Whole-exome sequencing (trio-based) to identify the genetic cause.
• Initiation of targeted therapy based on genetic findings.

Main Results:

• A pathogenic variant in the KCNQ2 gene was identified as the cause of epilepsy.
• The KCNQ2 gene is associated with epilepsy syndromes that are often treatment-resistant.
• Treatment with oxcarbazepine resulted in complete seizure control.
• The infant achieved normal neurodevelopmental milestones.

Conclusions:

• Acute trio-genome sequencing is a valuable tool for diagnosing unexplained neonatal conditions.
• Early genetic diagnosis enables targeted treatment, significantly improving patient outcomes.
• Identification of KCNQ2 mutations allows for specific therapeutic strategies in neonatal epilepsy.