Early Myoclonic Encephalopathy (EME)
Early myoclonic encephalopathy (EME) is a severely detrimental epileptic syndrome that occurs in neonates. At Protheragen, we focus on developing novel therapeutics, in addition to cultivating precise animal models to expedite preclinical studies of potential therapies for EME. With our experience, we guarantee precise and noteworthy assistance to their research, thereby accelerating the entire drug development process.
Introduction to Early Myoclonic Encephalopathy (EME)
Early myoclonic encephalopathy (EME) is a form of a rare and harmful neonatal epileptic syndrome which falls under the category of developmental and epileptic encephalopathies (DEEs). This ultra early-onset disease usually occurs within the first month of life and is marked by the presence of fragmentary myoclonus, tonic spasms, and a characteristic burst-suppression pattern of the EEG. EME is associated with a poor prognosis which includes high mortality and life-long developmental difficulties, showing an important void in the field of pediatric neurology.
Fig.1 Schematic illustration of the hypothetical pathophysiological mechanisms behind epileptic encephalopathy. (Kobayashi, Katsuhiro, et al., 2025)
Pathogenesis of Early Myoclonic Encephalopathy (EME)
Early myoclonic encephalopathy (EME) is associated with certain metabolic disturbances like nonketotic hyperglycinemia and pyridoxine deficiency. These, along with inherited mutations (e.g., SLC25A22, BRAT1), reduce fuel metabolism and disrupt neuronal hyperactivity, leading to deficient GABAergic neurotransmission, NMDA-mediated excitotoxic damage, and profound cerebral dismantling that generates the hallmark burst-suppression EEG pattern.
Therapeutic Development for Early Myoclonic Encephalopathy (EME)
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Lidocaine | Blocks voltage-gated sodium channels, reducing neuronal hyperexcitability | Nav1.1- Nav1.9 sodium channels | Early research |
| Phenobarbital | Enhances GABAA receptor activity, increasing chloride influx and inhibition | GABAA receptors | Approved |
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
As a professional preclinical research service provider, Protheragen is working hard to advance research in early myoclonic encephalopathy (EME). Protheragen's comprehensive and integrated service framework includes diagnostic and novel therapeutic development, meticulous disease modeling, and preclinical validation of the therapeutics. Our in vitro blood-brain barrier model allows vital in silico and in vitro testing for drug delivery to the central nervous system (CNS) so that the brain is well-exposed to the drug while the drug's toxic effects on the rest of the body are minimized.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- Pilocarpine Induced Model
- SLC25A22 Knockout Model
- BRAT1 Knockout Model
- Cdkl5 Knockout Model
- GABRB2 Mutation Model
- More
At Protheragen, we are dedicated to supporting the development of innovative therapies through comprehensive preclinical research services. Our expertise spans pharmacodynamics (PD), pharmacokinetic (PK) and toxicology studies, ensuring a thorough evaluation of your therapeutic candidates. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Kobayashi, Katsuhiro, et al. "Hypotheses of pathophysiological mechanisms in epileptic encephalopathies: A review." Brain and Development 47.1 (2025): 104318.