Rare Epileptic Syndromes
Rare epilepsy syndromes often present challenges in diagnosis, treatment and management due to their rarity, complex etiologies and diverse clinical manifestations. Protheragen boasts a talented team of researchers and scientists with extensive expertise in rare epilepsy syndromes. They are deeply committed to pioneering the development of cutting-edge therapies for rare epilepsy syndromes, aiming to address unmet therapeutic needs and advance targeted therapeutics in the field.
Overview of Rare Epileptic Syndromes
Rare epileptic syndromes represent a group of severe, often treatment-resistant neurological disorders characterized by early-onset seizures, developmental delays, and significant morbidity. These conditions include Dravet syndrome, Lennox-Gastaut syndrome (LGS), CDKL5 deficiency disorder (CDD), and PCDH19-related epilepsy, which are typically caused by monogenic mutations or structural brain abnormalities that lead to intractable seizures and neurodevelopmental regression.

Pathogenesis of Rare Epileptic Syndromes
In rare epileptic syndromes, the onset mechanisms involve complex interactions between genetic mutations and disruptions in neuronal circuit function, converging on the disruption of excitatory-inhibitory balance. For instance, in Dravet syndrome, loss-of-function mutations in SCN1A impair the activity of GABAergic interneurons, leading to cortical hyperexcitability and temperature-sensitive seizures. Common pathogenic mechanisms in these syndromes include ion channel dysfunctions, synaptic protein abnormalities, and developmental changes in dendritic morphology, collectively contributing to seizure generation and neurodevelopmental comorbidities.
Fig.2 Clinical manifestations and treatment strategies in children with Dravet syndrome. (Shao W H, et al., 2025)
Therapeutic Development for Rare Epileptic Syndromes
Drug Name | Indications | Mechanism of Action | NCT Number | Research Phase |
AMZ002 | Infantile Spasms | Synthetic neurosteroid analog modulating GABAA receptors (δ-subunit selective) | NCT05128344 | Phase III |
Prednisolone | Infantile Spasms | Broad anti-inflammatory glucocorticoid; may suppress immune-mediated epileptogenesis | NCT02299115 | Approved |
ION283 | Lafora Disease | Antisense oligonucleotide (ASO) targeting EPM2A/2B mRNA to reduce polyglucosan bodies | NCT06609889 | Phase I/II |
Clemizole HCl | Lennox-Gastaut Syndrome | Histamine receptor antagonist with secondary TRPC4/5 channel blockade | NCT05066217 | Phase III |
GWP42003-P | Myoclonic-Astatic Epilepsy | Cannabidiol analog with enhanced 5-HT1A receptor agonism and mTOR modulation | NCT05288283 | Phase III |
AUT00201 | Progressive Myoclonic Epilepsy | Kv7 potassium channel opener stabilizing neuronal membrane potential | NCT05873062 | Phase I/II |
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
Specializing in comprehensive solutions for rare epileptic syndromes, Protheragen integrates diagnostic development with cutting-edge in vitro diagnostic (IVD) kits for early disease identification. Our therapeutic development pipeline leverages exclusive disease models, such as physiologically representative blood-brain barrier (BBB) models, to expedite the exploration and authentication of central nervous system (CNS) targeted treatments.
Types of Rare Epileptic Syndromes
A-L | |
Dravet Syndrome Early Myoclonic Encephalopathy Infantile Spasms |
Lafora Disease Landau-Kleffner Syndrome Lennox-Gastaut Syndrome |
M-Z | |
Myoclonic-Astatic Epilepsy PCDH19-Related Epilepsy |
Progressive Myoclonic Epilepsy Rolandic Epilepsy-Speech Dyspraxia Syndrome |
Therapeutic Development Services

Diverse Therapeutic Development Platforms
Protheragen is passionately committed to leading the way in developing a wide range of molecular therapies meticulously designed to address the intricate challenges posed by these conditions.

Customized Drug Development Services
In the field of developing customized treatments for rare epileptic syndromes and other neurological disorders, we have designed a range of unique therapies, including but not limited to the following.
Disease Model Development Services

In Vitro Model
Development

Specializing in comprehensive preclinical assessment, Protheragen offers professional pharmacodynamic (PD), pharmacokinetic (PK) and toxicology research services to accelerate the therapeutic development of rare epileptic syndromes. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Scheffer I E, French J, Hirsch E, et al. Classification of the epilepsies: new concepts for discussion and debate—special report of the ILAE Classification Task Force of the Commission for Classification and Terminology[J]. Epilepsia open, 2016, 1(1-2): 37-44.
- Shao W H, Liu L, Gu J X, et al. Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome[J]. Translational Psychiatry, 2025, 15(1): 84.