Results 21 to 30 of about 1,820 (150)

Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study [PDF]

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.
Vibeke Arntsen, Vibeke Arntsen, Ahmed Jamali, Alma Sikiric, Erle Kristensen, Erle Kristensen, Trine Tangeraas, Guste Kupliauskiene, Sigurbjörg Stefansdottir, Laurence A. Bindoff, Laurence A. Bindoff, Trond Sand, Trond Sand, Eylert Brodtkorb, Eylert Brodtkorb   +14 more
doaj   +2 more sources

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy [PDF]

Molecular Therapy: Nucleic Acids
Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disorder of lysine catabolism caused by bi-allelic variants in ALDH7A1. This enzyme deficiency leads to accumulation of neurotoxic metabolites, pyridoxal-phosphate inactivation, and ...
Imke M.E. Schuurmans, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Gijs-Jan Scholten, Sara B. van Katwijk, Astrid Oudakker, Hilal H. Al-Shekaili, Dirk J. Lefeber, Blair R. Leavitt, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +13 more
doaj   +2 more sources

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +3 more sources

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency [PDF]

Frontiers in Genetics, 2021
ObjectiveTo describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype ...
Xianru Jiao, Pan Gong, Ye Wu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +2 more sources

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Martens J, Engelke UFH, Wevers RA, Lefeber DJ, Kulkarni P.   +4 more
europepmc   +2 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

Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) [PDF]

Science-Business eXchange, 2010

openalex   +3 more sources

Diethylaminobenzaldehyde Is a Covalent, Irreversible Inactivator of ALDH7A1 [PDF]

ACS Chemical Biology, 2015
There is growing interest in aldehyde dehydrogenases (ALDHs) because of their overexpression in cancer stem cells and the ability to mediate resistance to cancer drugs. Here, we report the first crystal structure of an aldehyde dehydrogenase complexed with the inhibitor 4-diethylaminobenzaldehyde (DEAB).
Min Luo, Kent S. Gates, Michael T. Henzl, John J. Tanner   +3 more
openalex   +3 more sources

Tellimagrandin II Stimulates Inflammasomes by Causing an Accumulation of 3-Aminopropanal, Which Promotes Apoptosis of Endometriotic Cells While Inhibiting Invasion [PDF]

Journal of Inflammation Research
Weisen Fan,* Yongjia Zhang,* Ruihua Zhao Gynecology Department, Guang ‘anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, 100053, China*These authors contributed equally to this workCorrespondence: Ruihua Zhao ...
Fan W, Zhang Y, Zhao R
doaj   +2 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations [PDF]

Oxford Medical Case Reports, 2020
Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth.
Yuri Dowa, Takashi Shiihara, Tomoyuki Akiyama, Kosei Hasegawa, Fumitaka Inoue, Mio Watanabe   +5 more
openalex   +3 more sources