Research Evidence
Peer-reviewed studies linked via MeSH term "Syndrome, Unverricht-Lundborg" from the MEDLINE/PubMed database.
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KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
[object Object], [object Object], [object Object] et al. · Epilepsia · 2024
PMID: 38231304Meta-Analysis
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
[object Object], [object Object] · Cells · 2024
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
[object Object], [object Object], [object Object] et al. · Epileptic Disord · 2023
Unverricht-Lundborg disease.
[object Object], [object Object], [object Object] et al. · Epileptic Disord · 2016
PMID: 27582036Review
Complex single gene disorders and epilepsy.
[object Object], [object Object], [object Object] · Epilepsia · 2012
PMID: 22946725Review
Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences.
[object Object], [object Object], [object Object] · Epilepsia · 2009
PMID: 19469842Review
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
[object Object], [object Object], [object Object] et al. · Epilepsia · 2009
PMID: 19469843Review
Molecular background of EPM1-Unverricht-Lundborg disease.
[object Object], [object Object], [object Object] · Epilepsia · 2008
PMID: 18028412Review
Clinical picture of EPM1-Unverricht-Lundborg disease.
[object Object], [object Object], [object Object] et al. · Epilepsia · 2008
PMID: 18325013Review
On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
[object Object], [object Object], [object Object] et al. · Adv Neurol · 2006
PMID: 16383151Review
Search all PubMed articles for Unverricht-Lundborg syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Appendicular ataxia
Very frequent (80-99%)HP:0002070
EEG: spike and multispike waves, 3-4 hz
Very frequent (80-99%)HP:0002392
Generalized tonic-clonic seizure (without specification of onset)
Very frequent (80-99%)HP:0002069
Involuntary jerking movements
Very frequent (80-99%)HP:0001336
Morning myoclonic jerks
Very frequent (80-99%)HP:0007000
Ataxia
Frequent (30-79%)HP:0001251
Difficulty articulating speech
Frequent (30-79%)HP:0001260
EEG with spike-wave complexes
Frequent (30-79%)HP:0010850
Intellectual deterioration
Frequent (30-79%)HP:0001268
Interictal epileptiform activity
Frequent (30-79%)HP:0011182
Mental retardation, mild
Frequent (30-79%)HP:0001256
Terminal tremor
Frequent (30-79%)HP:0002080
Cutaneous photosensitivity
Occasional (5-29%)HP:0000992
Dull intelligence
Occasional (5-29%)HP:0001249
Progressive dementia
Occasional (5-29%)HP:0000726
Generalized non-motor (absence) seizure
HP:0002121
Related Conditions
Quick Facts
- SNOMED CT
- 230423006
- UMLS CUI
- C0751785
- Fully Specified Name
- Unverricht-Lundborg syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.