scholarly journals A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy

Cureus ◽  
2021 ◽  
Author(s):  
Sai Chandar Dudipala ◽  
Prashanthi M ◽  
Amith Kumar Chennadi
Keyword(s):  
Novel Mutation ◽  
Progressive Myoclonus Epilepsy ◽  
Indian Girl ◽  
Myoclonus Epilepsy

scholarly journals Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review

Seizure ◽  
2018 ◽  
Vol 57 ◽  
pp. 80-86 ◽  
Author(s):  
Wo-Tu Tian ◽  
Xiao-Li Liu ◽  
Yang-Qi Xu ◽  
Xiao-Jun Huang ◽  
Hai-Yan Zhou ◽  
...  
Keyword(s):  
Renal Failure ◽  
Literature Review ◽  
Novel Mutation ◽  
Chinese Family ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Linkage analysis and exome sequencing identify a novel mutation inKCTD7in patients with progressive myoclonus epilepsy with ataxia

Epilepsia ◽  
2014 ◽  
Vol 55 (9) ◽  
pp. e106-e111 ◽  
Author(s):  
Sali M. K. Farhan ◽  
Lisa M. Murphy ◽  
John F. Robinson ◽  
Jian Wang ◽  
Victoria M. Siu ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Novel Mutation ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Altered Expression of Peroxiredoxins in Mouse Model of Progressive Myoclonus Epilepsy upon LPS-Induced Neuroinflammation

Antioxidants ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 357
Author(s):  
Mojca Trstenjak Prebanda ◽  
Petra Matjan-Štefin ◽  
Boris Turk ◽  
Nataša Kopitar-Jerala
Keyword(s):  
Mouse Model ◽  
Redox Homeostasis ◽  
Underlying Mechanism ◽  
Loss Of Function ◽  
Altered Expression ◽  
Lps Challenge ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy ◽  
The Brain ◽  
Deficient Mice

Stefin B (cystatin B) is an inhibitor of endo-lysosomal cysteine cathepsin, and the loss-of-function mutations in the stefin B gene were reported in patients with Unverricht–Lundborg disease (EPM1), a form of progressive myoclonus epilepsy. Stefin B-deficient mice, a mouse model of the disease, display key features of EPM1, including myoclonic seizures. Although the underlying mechanism is not yet completely clear, it was reported that the impaired redox homeostasis and inflammation in the brain contribute to the progression of the disease. In the present study, we investigated if lipopolysaccharide (LPS)-triggered neuroinflammation affected the protein levels of redox-sensitive proteins: thioredoxin (Trx1), thioredoxin reductase (TrxR), peroxiredoxins (Prxs) in brain and cerebella of stefin B-deficient mice. LPS challenge was found to result in a marked elevation of Trx1 and TrxR in the brain and cerebella of stefin B deficient mice, while Prx1 was upregulated only in cerebella after LPS challenge. Mitochondrial peroxiredoxin 3 (Prx3), was upregulated also in the cerebellar tissue lysates prepared from unchallenged stefin B deficient mice, while after LPS challenge Prx3 was upregulated in stefin B deficient brain and cerebella. Our results imply the role of oxidative stress in the progression of the disease.

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

2014 ◽  
Vol 339 (1-2) ◽  
pp. 210-213 ◽  
Author(s):  
Marsha Zeigler ◽  
Vardiella Meiner ◽  
J.P. Newman ◽  
Bettina Steiner-Birmanns ◽  
Ruth Bargal ◽  
...  
Keyword(s):  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate

2007 ◽  
Vol 23 (2) ◽  
pp. 240-242 ◽  
Author(s):  
Julie Turnbull ◽  
Santosh Kumar ◽  
Zhi-Ping Ren ◽  
Shanmugakonar Muralitharan ◽  
Taline Naranian ◽  
...  
Keyword(s):  
Disease Course ◽  
Genetic Isolate ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy
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