DeCure for Developmental and epileptic encephalopathy, 39
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for developmental and epileptic encephalopathy, 39 — 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 moduleDevelopmental and epileptic encephalopathy, 39 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 developmental and epileptic encephalopathy, 39 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 25 member 12 (SLC25A12) — SLC25A12 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4P5X · 2.261 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Developmental and epileptic encephalopathy 39 is one of a group of rare paediatric epilepsies in which treatment-resistant seizures, neurodevelopmental delay, and other neurological morbidities occur together. The underlying cause is often genetic: by August 2022, 105 genes had been associated with developmental and epileptic encephalopathy according to OMIM, and a 2015 diagnostic panel study of over 800 patients with epileptic encephalopathy reported that identifying the molecular defect could improve diagnosis and guide specific treatment options. The condition is understood to result from an interplay between the epileptic pathology itself and the acquired consequences of frequent seizures and epileptiform discharges, though the precise relationship remains unclear.
A 2025 systematic review of cannabidiol in children with developmental and epileptic encephalopathies included 13 studies with a total of 656 children. Cannabidiol was given at a maximum dose of 50 mg/kg/day. Almost all studies reported positive outcomes: in 10 of the studies, at least 20% of patients had a reduction in seizure frequency of 50% or more. Adverse events were relatively common and included somnolence, loss of appetite, diarrhoea, fatigue, and raised serum aminotransferases; most were mild to moderate and reversible. The review concluded that cannabidiol was well tolerated and effectively reduced seizure frequency in children whose seizures were uncontrolled with other antiepileptic drugs. However, none of the currently available drugs have succeeded in suppressing epileptiform activity entirely in these conditions, and the systematic review noted that future research should investigate long-term effects not only on seizure control but also on development and quality of life.
A 2006 case report described a child whose epilepsy evolved from treatment-responsive focal epilepsy at 18 months to treatment-resistant focal epilepsy with an epileptic encephalopathy by age 3, illustrating the poorly understood age-related changes in seizure susceptibility, seizure types, and drug responsiveness that can occur. A 2025 review of developmental and epileptic encephalopathies emphasised the importance of recognising treatable or modifiable entities within this group and summarised available precision therapies, but did not provide specific outcome data for any single drug or genetic subtype.
What is still missing are large, long-term prospective trials that measure not only seizure frequency but also cognitive and developmental outcomes, quality of life, and adverse effects over years rather than weeks. Patient stratification by specific genetic aetiology is rarely done in the studies available, making it impossible to know which subgroups, if any, derive more benefit. Funding for such stratified, long-term work remains scarce, and no trial has yet addressed whether cannabidiol or any other agent alters the developmental trajectory itself rather than simply reducing seizure counts.
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 · 2021 · 126 citations · open access
Developmental and epileptic encephalopathies: recognition and approaches to care
AbstractThe term "developmental and epileptic encephalopathy" (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood. In this setting, neurocognition, whilst not improved by seizure control, may benefit from some precision therapies. In patients with non-progressive diseases with cognitive impairment and co-existing epilepsy, in whom the epileptiform activity does not affect or has minimal effect on function, the term "developmental encephalopathy" (DE) can be used. In contrast, for those patients with direct impact on cognition due to epileptic or epileptiform activity, the term "epileptic encephalopathy" (EE) is preferred, as most can revert to their normal or near normal baseline cognitive state with appropriate intervention. These children need aggressive treatment. Clinicians must tailor care towards individual needs and realistic expectations for each affected person; those with DE are unlikely to gain from aggressive antiseizure medication whilst those with EE will gain. Patients with DEE might benefit from a precision medicine approach in order to reduce the overall burden of epilepsy.
Medicine Science and the Law · 1964 · 119 citations
The Neuropathology of Status Epilepticus
AbstractA description is given of the clinical and neuropathological findings in eleven cases of status epilepticus in young children. The distribution of ischaemic nerve cell changes in cerebral cortex, hippocampus, basal ganglia, and cerebellum, conform to the pattern of post-ictal brain damage described by Scholz. The same changes are found in brains showing oedema as in those without. Reasons are given for discounting the theory that vascular compression plays a decisive part in the pathogenesis of this type of encephalopathy.
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.
International Journal of Epilepsy · 2025 · 1 citations · open access
Developmental and Epileptic Encephalopathies: Progress in Understanding and Clinical Implications
AbstractAbstract Developmental and epileptic encephalopathies (DEEs) are a group of complex pediatric epilepsies associated with adverse neurodevelopmental outcomes and multiaxial neurological morbidities. The understanding of DEE has evolved from its initial genetic underpinnings, to a clinically driven term encompassing a broader group of etiologies. Although individually rare, the DEEs constitute a sizeable group of pediatric epilepsies. It is especially important to recognize treatable or modifiable entities in this group. This review attempts to highlight the progress in understanding, along with the evolution of the conceptual framework of DEEs. A summary of the currently well-established DEE syndromes is provided along with available precision therapies, which might help the treating physician in the appropriate evaluation and management of the affected children.
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.
Aristotle University of Thessaloniki · 2025 · 0 citations · open access
Efficacy and safety of cannabidiol in children with developmental and epileptic encephalopathies: A systematic review
AbstractDevelopmental and epileptic encephalopathies constitute rare epileptic conditions characterized by treatment-resistant seizures, neurodevelopmental delays, and various comorbidities. None of the currently available drugs succeeded in suppressing the epileptiform activity in those conditions. Cannabidiol has been used as a novel treatment strategy in patients with treatment-resistant epilepsies. We aimed to assess the efficacy and safety of cannabidiol in children with developmental and epileptic encephalopathies through a systematic review. For this systematic review, we searched MEDLINE, Cochrane Central Register of Controlled Trials, trial registries, and reference lists of included studies. All types of studies of pharmaceutical cannabidiol in children with developmental and epileptic encephalopathies were eligible, and we did not set any language or date restrictions. The risk of bias in included studies was assessed using validated tools. Of the 683 records identified, 13 were eligible for inclusion in this review. Studies were of different types and included a total of 656 children with developmental and epileptic encephalopathies. Cannabidiol was administered at a maximum 50mg/kg/day dose. Almost all studies reported positive outcomes with cannabidiol, leading to a reduction of 50% or above in seizure frequency in at least 20% of patients included in 10 studies. Adverse events were relatively common across studies and included somnolence, loss of appetite, diarrhea, fatigue, and increased serum aminotransferases. Most of them were mild to moderate and reversible. Overall, cannabidiol was found to be well tolerated and to effectively reduce seizure frequency in children with developmental and epileptic encephalopathies experiencing seizures uncontrolled with concomitant antiepileptic medications. Future research should investigate the long-term effects of cannabidiol not only in seizure control but also in enhancing the development and quality of life of affected children.
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.
Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy
AbstractAims: Epileptic encephalopathy (EE) is a severe form of epilepsy with additional psychomotor retardation. EEs have a very heterogeneous background with overlapping phenotypes. Identifying the underlying molecular defect can be very important to improve diagnosis, introduce specific or novel treatment options, and to estimate recurrence risks. For this purpose, we have developed a comprehensive diagnostic panel for epileptic encephalopathy, which is frequently updated.
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.
