DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for progressive myoclonic epilepsy type 6 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleProgressive myoclonic epilepsy type 6 maps to a 1-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 progressive myoclonic epilepsy type 6 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.
What the evidence adds up to
In a 2004 open study of levetiracetam as add-on therapy in nine patients with well-defined progressive myoclonic epilepsies and refractory myoclonus, five patients had improvement of their myoclonus score. The evaluation was semiquantitative, covering territory, intensity, and daily living activities. No controlled trial data are available, and the sample is too small to draw general conclusions.
A 2024 systematic review of SEMA6B-related disorders identified 36 cases (including one new case) from the literature. Patients were divided into four phenotypic groups: progressive myoclonic epilepsy (18/36), developmental and epileptic encephalopathy (13/36), neurodevelopmental disorder (4/36), and epilepsy (1/36). Response to antiseizure medications was highly variable, and almost half of the patients had pharmacoresistant seizures. The authors note that knowledge of SEMA6B-related disorders is limited due to extreme rarity.
A 2024 case report describes a patient with progressive myoclonic epilepsy type 7 due to a pathogenic variant in KCNC1 who showed myoclonus improvement after epileptic seizures. The authors suggest this pattern may be a clue to diagnosis of that specific subtype. This is a single observation, not a treatment finding.
Earlier genetic work from 1997 isolated gene loci for most progressive myoclonic disorders, and a 2010 study confirmed EFHC1 as a gene for juvenile myoclonic epilepsy in mice and humans. A 2003 review notes that juvenile myoclonic epilepsy is under-diagnosed and usually responds well to appropriate anticonvulsants, but that is a different disease from progressive myoclonic epilepsy type 6. No abstract directly addresses treatment for PME type 6. What is missing is any controlled trial for this specific genetic subtype, any biomarker to stratify patients by likely drug response, and funding for a multi-centre study large enough to detect a signal in such a rare population.
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.
Postgraduate Medical Journal · 2003 · 40 citations · open access
Juvenile myoclonic epilepsy: under-appreciated and under-diagnosed
AbstractJuvenile myoclonic epilepsy (JME) is a hereditary, idiopathic, generalised epilepsy and is found in 5%-11% of patients with epilepsy. It is characterised by myoclonic jerks, occasional generalised tonic-clonic seizures, and sometimes absence seizures. JME continues to be under-appreciated and under-diagnosed. Accurate diagnosis is important as it usually responds well to treatment with appropriate anticonvulsants and misdiagnosis often results in unnecessary morbidity. In addition lifelong therapy is usually indicated as the natural history is one of relapse off treatment, even after a prolonged seizure-free period.
Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders
AbstractAbstract Progressive myoclonus epilepsy (PME) is a rare, clinically and genetically heterogeneous epilepsy syndrome, and pathogenic variants in the semaphorin 6B (SEMA6B) gene have recently been reported to be among the causes of PME. Cases with pathogenic variants in the SEMA6B gene are extremely rare, only a limited number of cases have been reported in the literature. In this systematic review, we aimed to present a summary of a PME case in which a heterozygous nonsense variant of c.2086C > T p.(Gln696*) in the SEMA6B gene was detected in the etiology and other cases with SEMA6B pathogenic variant in the literature. Except for our case, 35 cases from 12 studies were included. The main clinical findings in these patients were cognitive problems, seizures, gait and speech disturbances, and cognitive and/or motor regression, and they had a wide spectrum of severity. Response to antiseizure medications was also highly variable, almost half of the patients had pharmacoresistant seizures. Patients were divided into four different phenotypic groups according to their clinical presentations: PME (18/36), developmental and epileptic encephalopathy (13/36), neurodevelopmental disorder (4/36), and epilepsy (1/36), respectively. In conclusion, although SEMA6B has been associated with PME, it may actually cause a much broader phenotypic spectrum. Due to their extreme rarity, our knowledge of SEMA6B-related disorders is limited. As with all other rare diseases, each new SEMA6B-related disorder case could contribute to a better understanding of the disease. A better understanding of the disease may allow the development of specific treatment options in the future.
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
AbstractBACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
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.
AbstractWe originally reported mutations of EFHC1 gene in patients with juvenile myoclonic epilepsy (JME). Subsequently, several other groups reported additional EFHC1 mutations in patients with JME and also in other types of idiopathic generalized epilepsy. We recently generated Efhc1-deficient mouse and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol. These results further support and confirm our proposal that EFHC1 is the gene for JME.
Research Square · 2024 · 0 citations · open access
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
AbstractAbstract Background: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case Report: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Discussion: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
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.
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