DeCure for Epilepsy with myoclonic atonic seizures
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for epilepsy with myoclonic atonic seizures — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleEpilepsy with myoclonic atonic seizures maps to a 6-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for epilepsy with myoclonic atonic seizures is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
solute carrier family 2 member 1 (SLC2A1) — SLC2A1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet bngdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6THA · 2.4 Å · ligand nonyl beta-D-glucopyranoside (BNG). Experimental structure, not a prediction.
What the evidence adds up to
In a 2005 family study of idiopathic generalised epilepsies, myoclonic and absence seizures clustered separately in families from Australia and Israel, suggesting distinct genetic influences on these seizure types. Generalised tonic-clonic seizures also showed familial clustering beyond chance in combined data sets. The authors concluded that seizure type, rather than syndrome, may define more genetically homogeneous subgroups.
A 2012 review noted that valproate and some benzodiazepines are widely used for myoclonic seizures, and that emerging evidence supports some newer antiepileptic drugs. However, it stated plainly that many myoclonic epilepsies remain refractory to drug treatment, and that some antiepileptic drugs can exacerbate or induce myoclonus. No controlled trial data were cited.
A 2024 case report described two patients with progressive myoclonic epilepsy. A 22-year-old woman with a KCNC1 mutation, whose myoclonus persisted despite perampanel, clonazepam and levetiracetam, was given acetazolamide 250 mg twice daily for two weeks around menses. The authors reported significant improvement in myoclonus, ambulation, balance and speech, sustained for 2.5 years. A 67-year-old man with an IRF2BPL mutation and progressive myoclonic epilepsy showed improvement in myoclonus with acetazolamide 250 mg twice daily biweekly, but balance and cognition continued to deteriorate. The authors noted four previous cases of action myoclonus that responded to acetazolamide, but acknowledged the evidence is limited to case reports.
A 1997 review of progressive myoclonic epilepsies reported that gene loci had been mapped for most of these disorders, enabling specific diagnosis and risk calculation, but did not address treatment outcomes. What remains missing are randomised controlled trials for any drug in myoclonic-atonic seizures, validated biomarkers to stratify patients by genetic subtype, and funding for adequately powered studies in these rare epilepsies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 2004 · 68 citations
Levetiracetam in progressive myoclonic epilepsy
AbstractThe authors conducted an open study of levetiracetam as add-on therapy in nine patients with well-defined progressive myoclonic epilepsies and refractory myoclonus. Myoclonus was evaluated semiquantitatively (territory, intensity, daily living activities). Five patients had improvement of their myoclonus score. Levetiracetam may benefit myoclonus in progressive myoclonic epilepsy.
Familial clustering of seizure types within the idiopathic generalized epilepsies
AbstractOBJECTIVE: To examine the genetic relationships among epilepsies with different seizure types--myoclonic, absence, and generalized tonic-clonic--within the idiopathic generalized epilepsies (IGEs). BACKGROUND: Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups. METHODS: Using the approach that found evidence of distinct genetic effects on myoclonic vs absence seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of seizure or IGE syndrome, as appropriate for the analysis performed. RESULTS: The proportion of families concordant for myoclonic vs absence seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance. CONCLUSIONS: These results provide additional evidence for distinct genetic effects on myoclonic vs absence seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic seizures within the idiopathic generalized epilepsies.
Expert Review of Neurotherapeutics · 2012 · 19 citations
Treatment of myoclonic seizures
AbstractMyoclonic seizures are sudden, brief, shock-like contractions that can vary in distribution and intensity. They may be present in different epilepsy syndromes, including some idiopathic generalized epilepsy, epileptic encephalopathies and progressive myoclonus epilepsies. Despite the fact that there are many studies about the pathophysiology of myoclonic seizures and clear descriptions of the different myoclonic epilepsy syndromes, relatively little has been written on treatment. Valproate and some benzodiazepines are widely used to treat myoclonic seizures. In addition, more treatment options exist today as there is emerging evidence to support the efficacy of some newer antiepileptic drugs. On the other hand, some myoclonic epilepsies remain refractory to drug treatment and some antiepileptic drugs may exacerbate or even induce myoclonus. In the coming years, better understanding of mechanisms of myoclonic seizures and myoclonic epilepsies could result in great improvement of therapy and the quality of life of patients.
The Clinical Challenge pf Progressive Myoclonus Epilepsy
AbstractHealth care providers who care for patients with seizure disorders should be able to recognize progressive myoclonus epilepsy. Progressive myoclonus epilepsy is a syndrome confused with myoclonic seizures and other epilepsies. The main symptom is myoclonus, a brief involuntary muscle jerk of varying intensity that can throw a patient against a wall or to the ground. This article describes major types of progressive myoclonus epilepsy, a typical case presentation and two clinical drug trials available for these patients. The focus of clinical drug trials is to identify a drug that controls the myoclonus and improves the quality of life for the affected individual. There is no cure for patients with progressive myoclonus epilepsy. 5-hydroxy-L-tryptophan and piracetam are two drugs available through clinical-research protocols to patients with progressive myoclonus epilepsy.
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 2024 · 1 citations · open access
P.049 Acetazolamide use for myoclonus: case report of 2 patients with progressive myoclonic epilepsy and literature review
AbstractBackground: Cortical myoclonus originates at cerebral cortex, predominantly occurring on voluntary movements. Few case reports described usage of Acetazolamide (ACZ) for myoclonus. Methods: Chart review of 2 patients was performed. Literature review was conducted on myoclonus and ACZ using Pubmed. Results: 22-year-old female was diagnosed with Progressive Myoclonic Epilepsy (PME) secondary to a KCNC1 mutation. Her symptoms started at 10 years old with bilateral tonic clonic seizures (BTCS), later developing progressive ataxia and myoclonus, involving face and limbs, which worsened with stimulus and menses. Medications included Perampanel, Clonazepam and Levetiracetam, however myoclonus was still limiting. At the age of 19, ACZ 250 mg BID was started for 2 weeks around her menses. Follow up revealed significant improvement of myoclonus, resulting in better ambulation, balance and speech, sustained 2.5 years after. 67-year-old male presented BTCS at the age of 53 along with cortical myoclonus, dementia and ataxia, leading to diagnosis of PME with a mutation on IRF2BPL. Improvement of myoclonus occurred with ACZ 250 mg BID biweekly, although balance and cognition still deteriorated. Conclusions: Previous literature outlines 4 cases of action myoclonus that responded to ACZ. We believe that ACZ should be considered to treat myoclonus, especially in cases with cortical involvement and hormonal fluctuations.
AbstractThe progressive myoclonic epilepsies are a rare group of debilitating epileptic encephalopathies characterized by myoclonic seizures, progressive neurological dysfunction and dementia. In the past year advances in gene mapping have isolated gene loci for the majority of progressive myoclonic disorders, paving the way for specific diagnosis, more accurate prognosis and risk calculation, as well as opening the potential for prenatal and pre-symptomatic diagnosis in at risk families.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
