Pharmacogenetic based precision therapy in childhood epilepsy: a case series

Prerna Choudhury; Aitha Vishaldeep; Kavita Srivastava

doi:10.18203/2349-3291.ijcp20263319

Authors

Prerna Choudhury Childhood epilepsy poses a significant burden for parents as well as healthcare systems. Drug refractory epilepsy (DRE) is predominantly caused by structural brain lesions or gene mutations affecting ion channels or neurotransmitter function affecting the brain networks. Precision medicine in childhood epilepsies has revolutionised the approach to children with DRE/DEE by tailoring medications based on clinical and molecular aspects. We present a case series of four paediatric patients with drug-resistant epilepsy who demonstrated inadequate seizure control with conventional antiseizure medications but showed significant clinical improvement following precision therapy guided by proposed mechanisms based on the gene defect.
Aitha Vishaldeep Department of Pediatric Neurology, Bharati Hospital Bharati Vidyapeeth Campus, Dhankewadi, Katraj, Pune, Maharashtra, India
Kavita Srivastava Department of Pediatric Neurology, Bharati Hospital Bharati Vidyapeeth Campus, Dhankewadi, Katraj, Pune, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20263319

Keywords:

Precision medicine, Genetic epilepsy, Epileptic encephalopathy, Pharmacogenomics

Abstract

Childhood epilepsy poses a significant burden for parents as well as healthcare systems. Drug refractory epilepsy (DRE) is predominantly caused by structural brain lesions or gene mutations affecting ion channels or neurotransmitter function affecting the brain networks. Precision medicine in childhood epilepsies has revolutionised the approach to children with DRE/DEE by tailoring medications based on clinical and molecular aspects. We present a case series of four paediatric patients with drug-resistant epilepsy who demonstrated inadequate seizure control with conventional antiseizure medications but showed significant clinical improvement following precision therapy guided by proposed mechanisms based on the gene defect.

Author Biographies

Aitha Vishaldeep, Department of Pediatric Neurology, Bharati Hospital Bharati Vidyapeeth Campus, Dhankewadi, Katraj, Pune, Maharashtra, India

MD Paediatrics

IAP Fellow in Paediatric Neurology

Kavita Srivastava, Department of Pediatric Neurology, Bharati Hospital Bharati Vidyapeeth Campus, Dhankewadi, Katraj, Pune, Maharashtra, India

MD (Ped), FRCPCH, FPN (IAP)

Professor and Head of Unit

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