Electroclinical phenotypes in genetic epilepsy Focus on EEG aspects [PDF]
This thesis explores the role of EEG as a biomarker for diagnosis, treatment response and prognosis in four specific genetic epilepsies. The subject is important, as the feasibility of precision therapy targeting pathophysiological mechanisms is ...
Arntsen, Vibeke
core +1 more source
PO-273 Aldehyde dehydrogenase 7A1 (ALDH7A1) contributes to reduction of reactive oxygen species generation in colorectal tumour microenvironment [PDF]
, 2018 Lina Elsalem +3 more
openalex +1 more source
Meta-analysis of prostate cancer gene expression data identifies a novel discriminatory signature enriched for glycosylating enzymes [PDF]
, 2014 core +1 more source
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature
The Turkish Journal of Pediatrics, 2015 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert +4 more
doaj
Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy. [PDF]
Mol Ther Nucleic AcidsSalih MA.
europepmc +1 more source
Astrocyte redox dysregulation causes prefrontal hypoactivity: sulforaphane treats non-ictal pathophysiology in ALDH7A1-mediated epilepsy [PDF]
, 2019 Travis E. Faust +12 more
openalex +1 more source
Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]
J NeurosciLiang Z +6 more
europepmc +1 more source
Homozygous mutations in <em>ALDH7A1</em> gene causing pyridoxine dependent epilepsy: Phenotype and genotype of three patients [PDF]
Kruti Shah, Shwetal Bhatt, Sarbani Raha
openalex +1 more source