Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
A Comparison of RNA Interference via Injection and Feeding in Honey Bees
Insects, 2022 RNA interference (RNAi) has been used successfully to reduce target gene expression and induce specific phenotypes in several species. It has proved useful as a tool to investigate gene function and has the potential to manage pest populations and reduce
Yong Zhang +4 more
doaj +1 more source
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]
, 2017 Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah +22 more
core
Expression profile of CREB knockdown in myeloid leukemia cells. [PDF]
, 2008 BackgroundThe cAMP Response Element Binding Protein, CREB, is a transcription factor that regulates cell proliferation, differentiation, and survival in several model systems, including neuronal and hematopoietic cells.
Cheng, Jerry C +6 more
core +2 more sources
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures [PDF]
Epilepsia, 2009 SummaryPyridoxine‐dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine.
STRIANO, PASQUALE +7 more
openaire +4 more sources
A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça +3 more
doaj +1 more source
Pyridoxine Responsiveness and PNPO Gene Mutations
Pediatric Neurology Briefs, 2014 Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin ...
J Gordon Millichap, John J Millichap
doaj +1 more source
Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers. [PDF]
, 2019 Although promoter-associated CpG islands have been established as targets of DNA methylation changes in cancer, previous studies suggest that epigenetic dysregulation outside the promoter region may be more closely associated with transcriptional changes.
Ando, Mizuo +24 more
core
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study [PDF]
, 2023 Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants.
Arntsen, Vibeke +12 more
core +1 more source