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neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy

MONDO:0800490

Also known as:NIE-SDE

Overview

A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments.

ResearchLimited published research (5 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy.

5 publications have been identified in PubMed for neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy. Research spans Basic Science / Preclinical (60%) and Epidemiology / Natural History (40%).

Recent Publications

Liebovitz LN (2026). [PMID: 41718449](https://pubmed.ncbi.nlm.nih.gov/41718449/). *Annals of clinical and translational neurology*. [Basic Science / Preclinical]
Liebovitz LN (2025). [PMID: 41279753](https://pubmed.ncbi.nlm.nih.gov/41279753/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Barcia G (2025). [PMID: 40347095](https://pubmed.ncbi.nlm.nih.gov/40347095/). *Epilepsia open*. [Epidemiology / Natural History]
Falabella M (2025). [PMID: 39279645](https://pubmed.ncbi.nlm.nih.gov/39279645/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Kurekci F (2024). [PMID: 38964184](https://pubmed.ncbi.nlm.nih.gov/38964184/). *Epilepsy & behavior : E&B*. [Epidemiology / Natural History]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 6:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team