DeCure for Developmental and epileptic encephalopathy, 11
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for developmental and epileptic encephalopathy, 11 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleDevelopmental and epileptic encephalopathy, 11 maps to a 2-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 developmental and epileptic encephalopathy, 11 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
sodium voltage-gated channel alpha subunit 2 (SCN2A) — SCN2A 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 3beta,14beta,17beta,25rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6J8E · 3.0 Å · ligand (3beta,14beta,17beta,25R)-3-[4-methoxy-3-(methoxymethyl)butoxy]spirost-5-en (9Z9). Experimental structure, not a prediction.
What the evidence adds up to
The five abstracts provided contain no clinical trial data, no drug names, and no treatment outcomes for developmental and epileptic encephalopathy type 11 or any other subtype. The 2015 review discusses a hypothesis that cognitive outcomes in epileptic encephalopathy result from an interplay between the underlying brain pathology and the effects of frequent seizures, but it offers no concrete evidence or numbers. The 2020 paper reports cerebrospinal fluid abnormalities in a single patient with a de novo CDK19 variant, but it does not describe any treatment or outcome. The 2024 review states that DEE is characterised by drug-resistant seizures and neurodevelopmental delay, with a poor prognosis overall, and that precision treatment is under discussion, but it gives no specific results. The 2006 case report describes one child whose epilepsy evolved from treatment-responsive to treatment-resistant over 18 months, but it provides no drug names or response rates. The 2023 genetic profile study from Brazil notes that by August 2022, 105 genes were associated with DEE according to OMIM, but it reports no treatment data.
No abstract mentions any drug, any response rate, any survival figure, or any improvement in seizure control or development for any DEE subtype, including type 11. The consistent message across these papers is that DEE is a genetically heterogeneous group of disorders with drug-resistant seizures and poor developmental outcomes, and that the relationship between seizures and developmental delay is not well understood. The 2006 case explicitly shows that a child's epilepsy can become treatment-resistant after initially responding to medication, but no specific drug is named.
What is missing is any clinical trial testing a repurposed drug for DEE type 11, any patient stratification by genetic subtype, and any funding for such trials. Without these, the abstracts offer only background descriptions of the disease and its poor prognosis, not evidence for any treatment.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Epileptic Disorders · 2011 · 53 citations · open access
The efficacy of bromides, stiripentol and levetiracetam in two patients with malignant migrating partial seizures in infancy
AbstractThe syndrome of malignant migrating partial seizures in infancy is a devastating, age-specific, epileptic encephalopathy, which still presents an aetiological, pathophysiological and therapeutic problem. In this study, we present two patients who were diagnosed with the disease, based on electroclinical symptoms. The patients were treated with a combination of sodium bromide, stiripentol and levetiracetam. The first patient unequivocally responded, following a course of ineffective conventional drugs, and the second, who was diagnosed and treated immediately, showed a more significant therapeutic response. Antiepileptic drugs, previously reported to be beneficial in case reports, when given concomitantly, may substantially reduce the number and severity of seizures, without influence on psychomotor development. [Published with video sequences].
Epileptic encephalopathies: Optimizing seizure control and developmental outcome
AbstractCognitive and developmental outcomes in patients with epileptic encephalopathy are hypothesized to result from an interplay between the underlying epileptic pathologic substrate and the acquired consequences of frequent and repetitive seizures and epileptiform discharges that often straddle the interictal and ictal boundaries. This article briefly reviews the evidence related to this assumption, presents critical questions that need to be answered to clarify this relationship, and advances a set of concrete steps that may help improve developmental patient outcomes.
Journal of Paediatrics and Child Health · 2007 · 7 citations
Early intervention for the ocular and neurodevelopmental sequelae of Fetal Valproate Syndrome
AbstractThe established teratogenicity of antiepileptic drugs raises important issues in women of child-bearing age. While the association between neural tube defects and antiepileptic drugs is well recognised, other congenital malformations are known to occur. We report two siblings with characteristic craniofacial features of Fetal Valproate Syndrome who also had associated ocular and neurodevelopmental problems which would benefit from early recognition and intervention.
Neurology Genetics · 2020 · 5 citations · open access
Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a <i>de novo CDK19</i> variant
AbstractDevelopmental and epileptic encephalopathy (DEE) is a spectrum of neurodevelopmental conditions in which psychomotor delay or regression arises in association with frequent epileptic activity. In the past decade, molecular genetics studies showed that DEE is caused by environmental insults and by genetic factors; several de novo pathogenic variants were also identified.1 The authors are indebted to the patient and her parents. The authors would also like to thank Enago ([enago.jp][1]) for the English language review. [1]: http://www.enago.jp/
DOAJ (DOAJ: Directory of Open Access Journals) · 2024 · 0 citations
Research progress on developmental and epileptic encephalopathy
AbstractDevelopmental and epileptic encephalopathy (DEE) is a group of heterogeneous disorders characterized by drug-resistant seizures and neurodevelopmental delay, which can hinder brain development and lead to severe cognitive, behavioral, and motor impairments. DEE is mainly driven by genetic factors, typically with an onset in infancy or early childhood and generally with an overall poor prognosis. This article provides a review of the definition, epilepsy syndromes, genetic etiology, and precision treatment of DEE.
A Child with Epilepsy: Initial Presentation and Subsequent Course
AbstractPresented is the case of a child with epilepsy with dramatic evolution between the ages of 18 months and 3 years. Initially, the case is one of treatment-responsive focal epilepsy, but then evolves to treatment-resistant focal epilepsy with an epileptic encephalopathy. The case demonstrates the poorly understood entities of age-related changes in seizure suspectibility, seizure types, and drug responsiveness.
Arquivos de Neuro-Psiquiatria · 2023 · 0 citations · open access
Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil
AbstractBackground: The developmental and epileptic encephalopathy (DEE) diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Many DEEs have a genetic basis that, by themselves, can alter the neurodevelopmental delay. By August 2022, there were 105 genes associated with DEE according to OMIM.
CACNA1A-associated epileptic encephalopathy triggered by minor trauma: importance of early diagnosis and appropriate treatment
AbstractThis case describes a female toddler who presented with status epilepticus, altered sensorium and hemiparesis after a trivial trauma, initially raising suspicion for acute ischaemic stroke. However, genetic analysis identified a novel heterozygous CACNA1A mutation, confirming developmental and epileptic encephalopathy. The child was subsequently started on targeted therapy with flunarizine, acetazolamide and antiepileptic medications, which led to effective seizure control and neurological improvement. This case emphasises the need to consider CACNA1A-associated encephalopathy in children presenting with post-traumatic seizures and encephalopathy, as early diagnosis facilitates individualised treatment and may alter disease trajectory.
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.
