ALLMedicine™ Alpers Syndrome Center
Research & Reviews 17 results
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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 ...
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...
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. ...
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...
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...