ALLMedicine™ Alpers Syndrome Center
Research & Reviews 20 results
https://doi.org/10.1007/s10048-021-00659-0 10.1146/annurev.biochem.69.1.617 10.1016/j.ymgme.2013.01.010 10.1038/jhg.2016.163 10.1038/s41586-020-2308-7 10.1038/nmeth0410-248 10.1093/nar/gks539 10.1038/nmeth.2890 10.1002/humu.20892 10.1038/gim.2015.30 10.1093/bioinformatics/bty966 10.1016/j.pediatrneurol.2018.07.014 10.1371/journal.pgen.1005097 10.1002/mgg3.115 10.1111/cge.13713 10.1016/j.jns.2017.06.019 10.3760/cma.j.issn.0578-1310.2019.11.006 10.1002/humu.22728 10.1038/gim.2015.121
Neurogenetics Štěrbová K, Vlčková M et. al.
Aug 21st, 2021 - Biallelic variants in the NARS2 gene are the cause of a continuous spectrum of neurodegenerative disorders presenting with various severity-from spastic paraplegia, progressive neurodegeneration to Leigh and Alpers syndrome. Common clinical signs ...
https://clinicaltrials.gov/ct2/show/NCT04542629
Sep 9th, 2020 - Definition of refractory epilepsy A task force of the International League Against Epilepsy proposed that drug-resistant epilepsy be defined as failure of adequate trials of two tolerated and appropriately chosen and used antiseizure drug schedule...
https://doi.org/10.1684/epd.2020.1183
Epileptic Disorders : International Epilepsy Journal With... Nishikawa A, Otani Y et. al.
Aug 8th, 2020 - We report a child who developed myoclonic status epilepticus (MSE) at four months of age, associated with rhythmic high-amplitude delta and superimposed (poly) spikes (RHADS), harbouring a GABRB2 (β2 subunit of the GABA A receptor) variant. The pa...
https://doi.org/10.1093/hmg/ddv509
Human Molecular Genetics; Pitayu L, Baruffini E et. al.
Dec 23rd, 2015 - Mitochondria are organelles that have their own DNA (mitochondrial DNA, mtDNA) whose maintenance is necessary for the majority of ATP production in eukaryotic cells. Defects in mtDNA maintenance or integrity are responsible for numerous diseases. ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299715
Molecular Genetics & Genomic Medicine; Sofou K, Kollberg G et. al.
Jan 30th, 2015 - Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. While mutations in POLG1, the gene encoding the gamma subunit of the mito...
Clinicaltrials.gov 1 results
https://clinicaltrials.gov/ct2/show/NCT04542629
Sep 9th, 2020 - Definition of refractory epilepsy A task force of the International League Against Epilepsy proposed that drug-resistant epilepsy be defined as failure of adequate trials of two tolerated and appropriately chosen and used antiseizure drug schedule...
News 1 results
https://www.mdedge.com/obgyn/article/77416/practice-management/ill-advised-genetic-counseling-1m-verdict
Aug 31st, 2013 - A mother had given birth to two children with thalamic abnormalities that resulted in seizures, developmental delays, and death. Before getting pregnant again, the parents sought genetic counseling and were told that identifying the specific defec.
