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Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency [PDF]

Clinical Case Reports
Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
doaj   +5 more sources

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   +7 more sources

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow [PDF]

International Journal of Neonatal Screening
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (
Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen-Khoa, David Guénet, Aurélie Empain, Magalie Barth, Benjamin Dauriat, Cécile Laroche-Raynaud, Corinne De Laet, Patrick Verloo, An I. Jonckheere, Manuel Schiff, Marie-Cécile Nassogne, Joseph P. Dewulf   +20 more
doaj   +4 more sources

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns [PDF]

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 ...
Patryk Lipiński, Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska   +8 more
doaj   +3 more sources

Tanshinone IIA inhibits heat-induced growth of p53-mutant Huh-7 hepatocellular carcinoma by modulating osmotic homeostasis and glycolysis through targeting ALDH7A1 [PDF]

Cell Death Discovery
Thermal ablation offers minimally invasive treatment options for hepatocellular carcinoma (HCC) therapy. However, local recurrence due to sublethal temperatures enhances tumor cell survival.
Hao Li, Shuguang Ju, Jiacheng Wang, Donglin Kuang, Pengfei Chen, Mengfan Zhang, Ruijie Qian, Chao Liang, Daqian Han, Xuhua Duan   +9 more
doaj   +4 more sources

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria [PDF]

BMC Neurology
Background Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the ...
Rida Jaber, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar   +5 more
doaj   +3 more sources

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]

PLoS ONE, 2017
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in ...
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews   +8 more
doaj   +3 more sources

ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy [PDF]

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   +2 more sources

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

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   +2 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