Results 51 to 60 of about 2,219 (171)
Aldh7a1 is important for optic fissure closure.
, 2014 (A–D) Injection of Aldh7a1 morpholino results in failure of optic fissure to close at 28 hpf and sustained at 5 dpf. (A) Eye of control morpholino (MO) injected embryo at 28 hpf, (B) Eye of aldh7a1 morphant at 28 hpf; (C) Ventral view of eye in control ...
Chad Brocker (184166) +7 more
core +1 more source
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy
Frontiers in Neuroscience, 2023 IntroductionGenetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects.
Bin Mao +21 more
doaj +1 more source
The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia
The Turkish Journal of Pediatrics, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin +4 more
doaj +1 more source
Case Reports in Genetics, 2022 Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1.
Jiyoung Kim +4 more
doaj +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
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study [PDF]
, 2021 Contains fulltext : 237469.pdf (Publisher’s version ) (Open Access)BACKGROUND: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies.
Oude Luttikhuis, M. A.M. +27 more
core +3 more sources
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source
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
Metabolic enzymes expressed by cancer cells impact the immune infiltrate
OncoImmunology, 2019 The expression of two metabolic enzymes, i.e., aldehyde dehydrogenase 7 family, member A1 (ALDH7A1) and lipase C, hepatic type (LIPC) by malignant cells, has been measured by immunohistochemical methods in non-small cell lung carcinoma (NSCLC) biopsies ...
Gautier Stoll +9 more
doaj +1 more source
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