# Is Precision Therapy in Infantile-Onset Epileptic Encephalopathieshes Still Too Far to Call Upon?
## 6 The Path Forward  
To fully harness the transformative potential of precision therapy, a multifaceted approach is necessary. Addressing current barriers requires a comprehensive framework that integrates genetic insights into clinical workflows, drives innovation in treatment modalities, and fosters collaboration across global networks. These strategies must be complemented by robust educational initiatives and patient-centered approaches to ensure meaningful and equitable implementation. The key elements include:  
1. Integration of Genetic Testing: Establishing genetic testing as a diagnostic standard is particularly critical in pediatric care. For example, identifying a pathogenic KCNQ2 mutation in an infant presenting with neonatal seizures can facilitate targeted treatment strategies, such as the use of sodium channel modulators, significantly improving developmental outcomes and reducing seizure burden [33]. Early genetic insights also help avoid ineffective or harmful therapies, enabling a precision-guided approach from the outset of care. 2. Studies on the impact of commonly used anti-epileptic drugs on gene expression: There are a few studies in the Literature on the impact of commonly used anti-epileptic drugs on the expression of genes linked to epile epileptogenesis. For example, in human embryonic stem cell based targeted to neural differentiation, valpro acid and carbamazepine exposure during differentiation determinate concentration-dependent \begin{table}
\begin{tabular}{l l l} \hline \hline \multicolumn{1}{c}{**Category**} & \multicolumn{1}{c}{**Examples**} & \multicolumn{1}{c}{**Impact**} \\ \hline Diagnostic Tools & NGS, WES, WGS, MRI spectroscopy & Enhanced identification of genetic \\ Gene-Specific Targeting & Sodium channel modulators (SCN2A), & Mutations and structural abnormalities \\  & ASOs (Angelman), CRISPR & Addressing underlying genetic causes \\  & mTOR inhibitors (TSC), AMPA & Improved seizure control and \\ Pathway-Specific Interventions & modulators (GRIN2A), neuroprotective & neuroprotection \\  & agents (POLG) & \\ Metabolic Interventions & Pyridoxine (Vitamin B6) for PDE, & Reducing seizures and addressing \\  & Ketogenic diet for GLUT1-DS & metabolic dysfunctions \\ Biomarkers & CSF neurofilament light chain, & Real-time monitoring of disease \\  & EEG patterns & progression and treatment efficacy \\ Therapeutic Challenges & Limited access, high costs, lack of RCTs & Hinder widespread adoption and \\  & Genetic testing standardization, global & Acelerating transition to \\ Future Strategies & collaboration, education & precision medicine \\ \hline \hline \end{tabular} NGS: next-generation sequencing; WES: whole-exome sequencing; WGS: whole-genome sequencing; MRI: Magnetic Resonance Imaging; SCN2A: sodium voltage-gated channel alpha subunit 2; ASOs: antisense oligonucleotides; CRISPR: clustered regularly interspersed short palindromic repeats; mTOR: mechanistic target of rapamycin; TSC: tubrous sclerosis complex AMPA: a-Amino-3-drospis-5-Mettil-4-isosassazol-Propionic Acid; GRIN2A: glutamate ionotropic receptor NMDA type subunit 2A; POLG: DNA polymerase gamma; PDE: Pyridoxine-Dependent Epilepsy; GLUT1-DS: Glucose transporter type 1 deficiency syndrome; CSF: Cerebrospinal fusion medicine  
\end{table} 
Table 1: Precision Therapy for EDEs. reduced expression of \(\beta\)III-tubulin, Neurogin1 and Reelin. Valproate caused an increased gene expression of Map2 and Mapt which is possibly related to the neural protective effect [34]. Of interest, Levetiracetam, one of the most widely used and safest anti-epileptic drugs, seems modular, in mice model, epileptogenesis by acting on the adenosine pathway with an increasing gene expression of A1 Rs and Kir3.2 in the brain and a reduction in the gene expression of ENT1 central nervous system [35]. Over the past two decades, drug repositioning strategies have become increasingly significant due to their lower failure rates and reduced economic costs.