DeCure for Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for neurodevelopmental disorder with hypotonia and speech delay, with or without seizures — 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 moduleNeurodevelopmental disorder with hypotonia and speech delay, with or without seizures 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 neurodevelopmental disorder with hypotonia and speech delay, with or without 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
eukaryotic translation initiation factor 4A2 (EIF4A2) — EIF4A2 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 3BOR · 1.85 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Exome sequencing in two siblings from an Arab-Moslem family in northern Israel identified a novel homozygous TBCK mutation, c.1854delT. Both individuals had severe intellectual disability, no speech, hypotonia, convulsions, and no independent daily skills. Elevated beta-HCG was noted in maternal serum during both pregnancies, a finding not previously reported. The paper describes the long-term phenotypic evolution of a severe nonspecific neurodevelopmental disorder but reports no treatment or intervention.
A 2022 case report describes a Chinese female with neonatal hypotonia, severe global developmental delay, no speech until age 2 years 6 months, and seizures that were easily controlled with levetiracetam. Whole-exome sequencing found a novel de novo frameshift variant in the SON gene, c.5334_5335delAG, leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome. Craniocerebral MRI showed mild delayed myelination, enlarged ventricles, and widened frontotemporal extracerebral space; interictal video EEG was normal. The report provides a definitive genetic diagnosis but does not evaluate any drug therapy beyond noting seizure control with levetiracetam.
A 2025 report describes a child with profound motor and speech delay, hypotonia, dystonia, and spasticity mimicking cerebral palsy. Molecular testing identified a pathogenic GNAI1 variant. The paper expands the phenotypic spectrum of GNAI1-associated neurodevelopmental disorder but reports no treatment data.
A 2016 review discusses the increased prevalence of neurodevelopmental disorders in children with epilepsy, including intellectual disability, autistic-spectrum disorders, speech and language disorders, ADHD, and learning disabilities. It notes that marked developmental delay and regression are typical of epileptic encephalopathies, and that neurodevelopmental disorders can occur with epileptiform EEG activity even without clinical seizures. The review does not report any drug trial or intervention.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2016 · 19 citations
TBCK‐related intellectual disability syndrome: Case study of two patients
Epilepsy and Paroxysmal Conditions · 2016 · 6 citations · open access
NEURODEVELOPMENTAL DISORDERS IN CHILDREN WITH EPILEPSY
AbstractNeurodevelopmental disorders, including intellectual disability, autistic-spectrum disorders, speech and language disorders, attention deficit hyperactivity disorder (ADHD), learning disabilities, are more prevalent in children with epilepsy compared with their peers. Marked developmental delay and regression of acquired skills are typical for epileptic encephalopathies. On the other hand, neurodevelopmental disorders associated with epileptiform activity on the EEG without any clinical manifestations of epileptic fits, represent a serious problem. The causes of neurodevelopmental disorders in children with epilepsy are discussed, as well as clinical features of some epilepsies, associated with neurodevelopmental disorders.
International Journal of Developmental Neuroscience · 2022 · 6 citations
A novel de novo frameshift variation in the <i>SON</i> gene causing severe global developmental delay and seizures in a Chinese female
AbstractBACKGROUND: With the rapid development of genetic detection technology, especially next-generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is to make a definitive diagnosis of a girl with neonatal hypotonia, severe global developmental delay, seizures and mild facial dysmorphism. METHODS: The clinical data of the patient were retrospectively studied. Whole-exome sequencing was performed on a blood sample from the patient. Subsequently, Sanger sequencing was utilized for validation of variants and parental validation. RESULTS: The patient had hypotonia since the neonatal period. She showed a significant delay in physical and psychomotor development. She did not have any speech until the age of 2 years and 6 months. She had seizures that were easy to control with levetiracetam. The craniocerebral magnetic resonance imaging (MRI) then showed mild delayed myelination, enlarged bilateral ventricles and widened frontotemporal extracerebral space. Interictal video electroencephalogram (VEEG) was normal. She had esotropia and mild facial abnormalities with a flat nasal bridge and a short nose. She showed no abnormalities in the heart, genitourinary or skeletal systems. Whole-exome sequencing revealed a novel de novo variant c.5334_5335delAG (p. Arg1778Serfs*11) in the SON gene. CONCLUSION: Our paper reports a novel variant in the SON gene and provides a definitive diagnosis of a female with neonatal hypotonia, severe global developmental delay, seizures and mild facial abnormalities, which are symptoms consistent with Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome).
S S Korsakov Journal of Neurology and Psychiatry · 2016 · 1 citations · open access
Neurodevelopmental disorders in children with epilepsy
AbstractNeurodevelopmental disorders, including intellectual disability, autistic-spectrum disorders, speech disorders, attention deficit hyperactivity disorder (ADHD), learning disabilities, are more prevalent in children with epilepsy compared with the general population. Marked developmental delay and regression of acquired skills are characteristic of epileptic encephalopathies. Conditions, in which neurodevelopmental disorders are associated with the marked epileptiform EEG activity, while clinical epileptic seizures are absent, represent a serious problem. The authors consider the features of epilepsy with electrical status epilepticus during slow-wave sleep, pseudo-Lennox syndrome, Landau-Kleffner syndrome, children autistic epileptiform regression, autosomal-dominant rolandic epilepsy with verbal dispraxy and a combination of epilepsy and subclinical epileptiform EEG activity with developmental dysphasia and ADHD. In addition to the optimization of basic treatment with antiepileptic drugs (AEDs), nootropic drugs which do not increase epileptiform activity (hopantenic acid), are recommended.
Clinical Case Reports · 2025 · 0 citations · open access
A <scp>GNAI1</scp> Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of <scp>GNAI1</scp> ‐Associated Neurodevelopmental Disorder
AbstractABSTRACT Novel genes are increasingly associated with neurodevelopmental disorders featuring developmental delay, epilepsy, and behavioral abnormalities. We report a child with profound motor and speech delay, hypotonia, dystonia, and spasticity mimicking cerebral palsy. Molecular testing revealed a pathogenic GNAI1 variant, expanding the phenotypic spectrum of this rare condition.
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.
