ALLMedicine™ Alpers Syndrome Center
Research & Reviews 18 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://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...
https://doi.org/10.1002/hep.27712
Hepatology (Baltimore, Md.); Li S, Guo J et. al.
Jan 22nd, 2015 - Valproic acid (VPA) is widely used to treat epilepsy, migraine, chronic headache, bipolar disorder, and as adjuvant chemotherapy, but potentially causes idiosyncratic liver injury. Alpers-Huttenlocher syndrome (AHS), a neurometabolic disorder caus...
