DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for epilepsy, familial adult myoclonic — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleEpilepsy, familial adult myoclonic maps to a 5-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, familial adult myoclonic 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
YEATS domain containing 2 (YEATS2) — YEATS2 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 nh4drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5XNV · 2.696 Å · ligand AMMONIUM ION (NH4). Experimental structure, not a prediction.
What the evidence adds up to
A 2002 study of a four-generation European family with 13 affected members (10 living, 3 deceased) found that the mean age at onset of familial adult myoclonic epilepsy (FAME) was 41 years (range 30–60). Eight of the 13 had generalised tonic-clonic seizures. Electrophysiologic studies in five living patients confirmed the diagnosis. Linkage analysis excluded the previously reported FAME/BAFME locus on chromosome 8q23.3-q24.1, establishing that the disorder is genetically heterogeneous and occurs outside Japan.
A 1975 report described seven cases of progressive familial myoclonus epilepsy from three families, all with abnormal EEGs. The authors judged these cases clinically belonged to the Lafora bodies group. One patient had nystagmus and optic atrophy, which the authors noted had not been described before. Myoclonic jerks did not respond to treatment with diazepam and ethosuximide.
A 1997 review summarised that the progressive myoclonic epilepsies are a rare group of epileptic encephalopathies characterised by myoclonic seizures, progressive neurological dysfunction and dementia. The review noted that recent gene mapping had isolated loci for most progressive myoclonic disorders, enabling specific diagnosis, more accurate prognosis and risk calculation, and opening potential for prenatal and pre-symptomatic diagnosis in at-risk families.
What is still missing is any proven pharmacological treatment for the myoclonus in these disorders — the 1975 report explicitly documents failure of two drugs. No randomised controlled trials exist for FAME or progressive myoclonic epilepsies. Patient stratification by underlying genetic cause is now possible but has not yet been linked to differential drug responses. Funding for such trials remains scarce.
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 · 2002 · 47 citations
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)
AbstractBACKGROUND: Familial adult myoclonic epilepsy (FAME) is defined by autosomal dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, nonprogressive course, abnormality of polyspikes and waves on examination by EEG and photosensitivity, giant somatosensory evoked potentials, enhancement of C reflex, and premyoclonus spike detected by means of the jerk-locked averaging EEG method. These findings were also observed in patients with benign adult familial myoclonic epilepsy (BAFME) and patients with familial cortical tremor. FAME and BAFME have been described only in Japan. The genes responsible for FAME and BAFME were mapped in the same genetic interval in 8q22.3-q24.1 OBJECTIVE: To study clinical and genetic characteristics of a European family with FAME. METHODS: A four-generation European kindred presenting with FAME, including 18 members, is described. Clinical analysis was performed on 15 living subjects and electrophysiologic study on 5 patients. Linkage analysis was performed with fluorescent microsatellites encompassing the FAME/BAFME locus (8q23.3-q24.1). RESULTS: Ten living and three deceased relatives had the clinical characteristics of FAME. Mean age at onset of the 10 living patients was 41 years (range, 30-60 years). Eight of the 13 affected subjects had generalized tonic-clonic seizures. Electrophysiologic studies confirmed the diagnosis of FAME in the five patients studied. The pattern of inheritance was consistent with an autosomal dominant inheritance. The locus responsible for FAME/BAFME was excluded. CONCLUSION: Observation of a European family extends the occurrence of familial adult myoclonic epilepsy to non-Japanese patients. Exclusion of linkage of this family to the locus for familial adult myoclonic epilepsy/benign adult familial myoclonic epilepsy established the genetic heterogeneity of this disorder.
Journal of Neurology Neurosurgery & Psychiatry · 1975 · 2 citations · open access
Progressive familial myoclonus epilepsy.
AbstractSeven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with diazepam and ethosuximide.
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.
