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About 55 results

ALLMedicine™ Alpers Syndrome Center

Research & Reviews  20 results

Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading ...
https://doi.org/10.1007/s10048-021-00659-0
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 ...

Comparative Study of Dietary and Immunological Management of Refractory Epilepsy in Children
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...

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...

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Clinicaltrials.gov  1 results

Comparative Study of Dietary and Immunological Management of Refractory Epilepsy in Children
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...

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News  1 results

Ill-advised genetic counseling: $1M verdict
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.

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