Myoclonic Epilepsies, Progressive
"Myoclonic Epilepsies, Progressive" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
| Descriptor ID |
D020191
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| MeSH Number(s) |
C10.228.140.490.375.130.650 C10.228.140.490.493.063.650
|
| Concept/Terms |
Myoclonic Epilepsies, Progressive- Myoclonic Epilepsies, Progressive
- Epilepsies, Progressive Myoclonic
- Epilepsy, Progressive Myoclonic
- Progressive Myoclonic Epilepsies
- Progressive Myoclonic Epilepsy
- Myoclonic Epilepsy, Progressive
- Progressive Myoclonus Epilepsies
- Epilepsies, Progressive Myoclonus
- Epilepsy, Progressive Myoclonus
- Myoclonus Epilepsies, Progressive
- Progressive Myoclonus Epilepsy
Atypical Inclusion-Body Disease- Atypical Inclusion-Body Disease
- Atypical Inclusion Body Disease
- Atypical Inclusion-Body Diseases
- Inclusion-Body Disease, Atypical
- Inclusion-Body Diseases, Atypical
Dentatorubral-Pallidoluysian Atrophy- Dentatorubral-Pallidoluysian Atrophy
- Atrophies, Dentatorubral-Pallidoluysian
- Atrophy, Dentatorubral-Pallidoluysian
- Dentatorubral Pallidoluysian Atrophy
- Dentatorubral-Pallidoluysian Atrophies
- Naito-Oyanagi Disease
- Naito-Oyanagi Diseases
- Haw River Syndrome
- Haw River Syndromes
- River Syndromes, Haw
- Naito Oyanagi Disease
- Ataxia, Chorea, Seizures, And Dementia
Action Myoclonus-Renal Failure Syndrome- Action Myoclonus-Renal Failure Syndrome
- Action Myoclonus Renal Failure Syndrome
- Myoclonus-Nephropathy Syndrome
- Myoclonus Nephropathy Syndrome
- Myoclonus-Nephropathy Syndromes
- Syndromes, Myoclonus-Nephropathy
Biotin-Responsive Encephalopathy- Biotin-Responsive Encephalopathy
- Biotin Responsive Encephalopathy
- Biotin-Responsive Encephalopathies
- Encephalopathies, Biotin-Responsive
- Encephalopathy, Biotin-Responsive
|
Below are MeSH descriptors whose meaning is more general than "Myoclonic Epilepsies, Progressive".
Below are MeSH descriptors whose meaning is more specific than "Myoclonic Epilepsies, Progressive".
This graph shows the total number of publications written about "Myoclonic Epilepsies, Progressive" by people in this website by year, and whether "Myoclonic Epilepsies, Progressive" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Myoclonic Epilepsies, Progressive" by people in Profiles.
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Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. Genes (Basel). 2023 09 25; 14(10).
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Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects. Dis Model Mech. 2022 09 01; 15(9).
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Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. J Neurogenet. 2021 Mar-Jun; 35(2):74-83.
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 09; 41(9):1469-1487.
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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):549-558.
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Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function. Neurochem Int. 2019 10; 129:104486.
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A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. Neuropediatrics. 2006 Oct; 37(5):308-11.
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A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Dev. 2006 Jul; 28(6):353-7.
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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). Cell Death Differ. 2003 Dec; 10(12):1329-35.