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 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.
Concept/Terms
Myoclonic Epilepsies, Progressive- Myoclonic Epilepsies, Progressive
- Epilepsies, Progressive Myoclonic
- Epilepsy, Progressive Myoclonic
- Myoclonic Epilepsy, Progressive
- Progressive Myoclonic Epilepsies
- Progressive Myoclonus Epilepsies
- Epilepsies, Progressive Myoclonus
- Epilepsy, Progressive Myoclonus
- Myoclonus Epilepsies, Progressive
- Myoclonus Epilepsy, Progressive
- Progressive Myoclonus Epilepsy
- Progressive Myoclonic Epilepsy
Atypical Inclusion-Body Disease- Atypical Inclusion-Body Disease
- Atypical Inclusion Body Disease
- Atypical Inclusion-Body Diseases
- Disease, Atypical Inclusion-Body
- Diseases, Atypical Inclusion-Body
- 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
- Oyanagi Disease, Naito
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 Harvard Catalyst Profiles by year, and whether "Myoclonic Epilepsies, Progressive" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2017 | 2 | 0 | 2 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
Below are the most recent publications written about "Myoclonic Epilepsies, Progressive" by people in Profiles.
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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am J Hum Genet. 2021 04 01; 108(4):722-738.
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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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Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disord. 2020 Oct 01; 22(5):654-658.
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Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration. Curr Biol. 2017 Dec 04; 27(23):3626-3642.e6.
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Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. Clin Neurol Neurosurg. 2018 01; 164:47-49.
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Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2017 06; 38(6):611-614.
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Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. Clin EEG Neurosci. 2016 Oct; 47(4):317-323.
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan; 47(1):39-46.
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Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia. 2014 Sep; 55(9):e106-11.
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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. J Med Genet. 2012 Jun; 49(6):391-9.