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infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

MONDO:0018314

Overview

A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.

ResearchLimited published research (2 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression.

2 publications have been identified in PubMed for infantile-onset mesial temporal lobe epilepsy with severe cognitive regression. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Clayton LM (2025). [PMID: 40381056](https://pubmed.ncbi.nlm.nih.gov/40381056/). *Current neurology and neuroscience reports*. [Review / Meta-Analysis]
Eriksson MH (2024). [PMID: 38643018](https://pubmed.ncbi.nlm.nih.gov/38643018/). *Brain : a journal of neurology*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:391316

GARD

Genetic and Rare Diseases Info Center

GARD:21619

Questions for Your Care Team

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infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team