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About 40 results

ALLMedicine™ Alpers Syndrome Center

Research & Reviews  16 results

A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high...
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...

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblast...
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. ...

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial...
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...

Valproic acid-induced hepatotoxicity in Alpers syndrome is associated with mitochondria...
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...

Quantitative multiplex PCR of short fluorescent fragments for the detection of large in...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953900
European Journal of Human Genetics : EJHG; Rouzier C, Chaussenot A et. al.

Aug 8th, 2013 - Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most ...

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