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About 98 results

ALLMedicine™ Alpers Syndrome Center

Research & Reviews  49 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 7th, 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...

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DN...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115
Human Molecular Genetics; Siibak T, Clemente P et. al.

Apr 21st, 2017 - Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutation...

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 22nd, 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. ...

The in cis T251I and P587L POLG1 base changes: description of a new family and literatu...
https://doi.org/10.1016/j.nmd.2015.01.004
Neuromuscular Disorders : NMD; Scuderi C, Borgione E et. al.

Feb 10th, 2015 - Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominan...

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 29th, 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...

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Clinicaltrials.gov  49 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 7th, 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...

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DN...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115
Human Molecular Genetics; Siibak T, Clemente P et. al.

Apr 21st, 2017 - Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutation...

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 22nd, 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. ...

The in cis T251I and P587L POLG1 base changes: description of a new family and literatu...
https://doi.org/10.1016/j.nmd.2015.01.004
Neuromuscular Disorders : NMD; Scuderi C, Borgione E et. al.

Feb 10th, 2015 - Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominan...

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 29th, 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...

see more →