Results 11 to 20 of about 1,896 (150)

Case Report: Early (Molecular) Diagnosis Is the Clue: Report on ALDH7A1 Deficiency in Newborns

Frontiers in Genetics
The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherited ...
Dorota Hoffman-Zacharska, Magdalena Pajdowska, Patryk Lipinski   +2 more
exaly   +5 more sources

aldh7a1 regulates eye and limb development in zebrafish. [PDF]

PLoS ONE, 2014
Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating ...
Holly E Babcock, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks   +7 more
doaj   +4 more sources

ALDH7A1 Protects Against Ferroptosis by Generating Membrane NADH and Regulating FSP1 [PDF]

Cell
Ferroptosis is a form of cell death due to iron-induced lipid peroxidation. Ferroptosis suppressor protein 1 (FSP1) protects against this death by generating antioxidants, which requires nicotinamide adenine dinucleotide, reduced form (NADH) as a cofactor.
Koki Kamizaki, Jillian Stark
exaly   +4 more sources

ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2010
Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj   +4 more sources

ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals

Nutrition & Metabolism, 2022
Background: Epidemiological studies have identified common risk factors for cerebral stroke worldwide. Some of these factors include hypertension, diabetes, smoking, excessive drinking, and dyslipidemia.
Chun-Hsiang Lin, Oswald Ndi Nfor, Chien-Chang Ho, Shu-Yi Hsu, Disline Manli Tantoh, Yi-Chia Liaw, Daria Mochly-Rosen, Che-Hong Chen, Yung-Po Liaw   +8 more
doaj   +3 more sources

Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. [PDF]

PLoS Genetics, 2010
Osteoporosis is a major public health problem. It is mainly characterized by low bone mineral density (BMD) and/or low-trauma osteoporotic fractures (OF), both of which have strong genetic determination.
Yan Guo, Li-Jun Tan, Shu-Feng Lei, Tie-Lin Yang, Xiang-Ding Chen, Feng Zhang, Yuan Chen, Feng Pan, Han Yan, Xiaogang Liu, Qing Tian, Zhi-Xin Zhang, Qi Zhou, Chuan Qiu, Shan-Shan Dong, Xiang-Hong Xu, Yan-Fang Guo, Xue-Zhen Zhu, Shan-Lin Liu, Xiang-Li Wang, Xi Li, Yi Luo, Li-Shu Zhang, Meng Li, Jin-Tang Wang, Ting Wen, Betty Drees, James Hamilton, Christopher J Papasian, Robert R Recker, Xiao-Ping Song, Jing Cheng, Hong-Wen Deng   +32 more
doaj   +4 more sources

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]

PLoS ONE, 2014
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin   +7 more
doaj   +4 more sources

Utility and Limitations of EEG in the Diagnosis and Management of ALDH7A1-Related Pyridoxine-Dependent Epilepsy. A Retrospective Observational Study

Frontiers in Neurology
PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Eylert Brodtkorb, Trond Sand, Laurence Bindoff   +2 more
exaly   +3 more sources

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study [PDF]

Frontiers in Neurology
ObjectiveTo summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE).MethodsClinical data were collected from six pediatric patients with PDE treated at Linyi People’s Hospital
Xixi Yu, Xin Zhang, Shiyan Qiu, Li Yang, Xin Li, Dongyu Shi   +5 more
doaj   +2 more sources

Refractory Seizures in a Neonate with a Rare Coexistence of Variants in Both ALDH7A1 and RHOBTB2 Genes

Indian Pediatrics Case Reports
Background: Pyridoxine-dependent epilepsy due to ALDH7A1 gene mutation is a known, but rare autosomal recessive disorder, presenting with early-onset, refractory seizures.
Kavya Rajanna, Mohit Ajmera, Swati Mehta, J. Suraj Kumar   +3 more
doaj   +2 more sources