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Myoclonic Astatic Epilepsy (MAE)

Myoclonic astatic epilepsy (MAE) is a severe form of epileptic encephalopathy that typically starts in early childhood. Nearly half of all cases suffer from intractable seizures and permanent neurological conditions even after receiving treatment. With our in-depth knowledge of MAE treatment development, Protheragen is optimally positioned to offer bespoke assistance and robust support to guide you from MAE therapy research to commercial development.

Overview of Myoclonic Astatic Epilepsy (MAE)

Myoclonic astatic epilepsy (MAE), or Doose syndrome, is a rare form of epilepsy primarily affecting children ages 2 to 5, with a rough prevalence of 1 in 10,000 children. MAE is defined by myoclonic-atonic seizures, myoclonic jerks, and generalized tonic-clonic seizures. It is particularly difficult to treat because of its diverse prognosis and complicated genetic-etiological factors.

Fig.1 Myoclonic epilepsy-related diseases and therapeutic interventions. (Lin Lin Lee, Vanessa, et al., 2018)

Pathogenesis of Myoclonic Astatic Epilepsy (MAE)

Myoclonic astatic epilepsy (MAE) arises from specific genetic mutations in ion channel proteins like SCN1A and GABRG2, and also in GABAergic synaptic proteins, which reduces GABAergic inhibition and causes thalamocortical network hyperexcitability. This is observed in the characteristic myoclonic-atonic seizures, as well as the generalized spike and wave discharges on EEG.

Therapeutic Development for Myoclonic Astatic Epilepsy (MAE)

Drug Names	Mechanism of Action	Targets	Research Phase
Valproic Acid	Enhances GABAergic transmission Blocks voltage-gated sodium channels HDAC inhibition	GABA transaminase, Na_v channels, histone deacetylases	Approved
Lamotrigine	Voltage-gated sodium channel blockade Calcium channel modulation	Na_v1.2/1.6 channels, Ca_v2.2/Ca_v3.2 channels	Approved
Topiramate	Sodium channel blockade GABAA potentiation AMPA/kainate receptor inhibition Carbonic anhydrase inhibition	Na_v channels, GABAA receptors, GluK1-5 receptors, CA-II/IV	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 preclinical research service provider for myoclonic astatic epilepsy (MAE), Protheragen offers full-spectrum solution for innovative diagnostic and therapeutic development. We specialize in constructing in vitro and animal models as well as bespoke blood-brain barrier (BBB) models that are physiologically relevant to facilitate extensive biomarker and target validation, as well as optimization of drug efficacy for the central nervous system (CNS).

Therapeutic Development Services

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Disease Model Development Services

In Vitro Model Development
Patient-Derived Cell Model Development Neuronal Cell Model Development Glial Cell Model Development	Co-Culture Model Development Brain Organoid Development Spinal Cord Organoid Development
Microfluidic Model Development
Neurovascular Unit (NVU) Model Development Axon Degeneration Model Development Neuromuscular Junction (NMJ) Model Development	Neuroinflammation Model Development Synaptic Plasticity Model Development Organoid-on-a-Chip Model Development
Animal Model Development
slc6a1-knockout zebrafish model recapitulates key features of myoclonic astatic epilepsy (MAE), including GABA transporter deficiency-induced hyperexcitability, seizure-like behaviors, and movement disorders, providing a high-throughput platform for drug screening and mechanistic studies. SCN1A haploinsufficient mouse model is generated by gene editing to introduce a heterozygous loss-of-function mutation in the SCN1A gene, resulting in a 50% reduction in the expression of the Na_v1.1 sodium channel protein in GABAergic interneurons, thereby reliably reproducing the epileptic phenotype and neurophysiological abnormalities characteristic of human MAE.

To advance the commercialization of novel therapies for myoclonic astatic epilepsy (MAE), Protheragen provides comprehensive preclinical research services, covering pharmacodynamics (PD), pharmacokinetics (PK), and toxicology studies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

Lin Lin Lee, Vanessa, et al. "Treatment, therapy and management of metabolic epilepsy: a systematic review." International Journal of Molecular Sciences 19.3 (2018): 871.

For research use only. Not intended for any clinical use.