Dravet Syndrome (DS)

Dravet syndrome (DS) is classified as a severe genetic disorder with developmental and epileptic symptoms. As a leader in DS research and treatment, Protheragen has dedicated researchers and scientists who are focused on devising novel therapies. They are intent on blazing new paths toward developing DS therapies and meeting specific treatment gaps in the field of precision medicine.

Introduction to Dravet Syndrome (DS)

Dravet syndrome (DS) or severe myoclonic epilepsy of infancy (SMEI) is classified as a rare and severe form of developmental and epileptic encephalopathy (DEE). It presents within the first year of life as long febrile seizures, followed by refractory epilepsy, impairment in cognitive function, and motor skills. Its estimated prevalence is around 1 in 15,000 to 40,000 live births. Currently, the most severe and life-threatening consequences of the condition, including sudden unexpected death in epilepsy (SUDEP) and status epilepticus, remain a challenge in DS management.

Fig.1 Symptoms and treatment strategies for children with Dravet syndrome (DS). (Shao, WeiHui, et al., 2025)

Pathogenesis of Dravet Syndrome (DS)

Dravet syndrome (DS) arises mainly due to loss-of-function mutations in the SCN1A gene, which encodes for the sodium channel subunit Nav1.1. These mutations lead to haploinsufficiency of the gene encoding for the voltage-gated sodium channel, which in turn weakens the GABAergic interneurons. This weakening disturbs the equilibrium of neuronal excitation and inhibition, which causes hyperexcitability and seizures. SCN1A mutations account for approximately ~90% of cases. Modifier genes and the mutations' impact on neural networks, however, add to the phenotypic variability and severity of the disorder.

Fig.2 Diverse genetic features may be the linkage of Dravet syndrome (DS) and SUDEP. (Shao, WeiHui, et al., 2025)

Therapeutic Development for Dravet Syndrome (DS)

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen is a leading provider of diagnostic and therapeutic development services for rare epileptic syndromes like Dravet syndrome (DS). Our work is centered around creating sophisticated disease models for DS pathogenesis and applying novel blood-brain barrier (BBB) models to improve the delivery and efficacy of therapeutic agents. Our work is aimed at developing precise diagnostic kits and effective therapeutic agents for DS.

Therapeutic Development Services

By Molecule Types

• Small Molecule Drug Development
• Therapeutic Antibody Development
• Cell Therapy Development
• Therapeutic Peptide Development
• Gene Therapy Development
• Therapeutic Protein Development

By Mechanism of Action

• Neuroprotective Agent Development
• Mitochondria-targeted Drug Development
• Glutamate Modulator Development
• Protein Misfolding Inhibitor Development
• Anti-neuroinflammatory Drug Development
• Protein Aggregation Inhibitor Development
• Antioxidant Development
• Excitotoxicity Inhibitor Development

Disease Model Development Services

At Protheragen, we are committed to supporting the development of innovative therapeutics through comprehensive preclinical research services, including pharmacodynamics (PD), pharmacokinetic (PK) and toxicology studies. Our customized approach addresses the unique challenges of your studies and helps you optimize your drug candidates for commercial success. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

1. Shao, WeiHui, et al. "Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome." Translational Psychiatry 15.1 (2025): 84.

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