Results 141 to 150 of about 2,516,365 (158)

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Journal of Pediatric Neurology, 2021
Despite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme
Raffaele Falsaperla, Santiago Presti, Antonino Zanghì   +2 more
exaly   +2 more sources

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

European Journal of Paediatric Neurology, 2018
Background: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay,
Elisa Bettella, Alessandra Murgia, Alberto Burlina   +2 more
exaly   +2 more sources

Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense against Hyperosmotic Stress

Journal of Biological Chemistry, 2010
Mammalian ALDH7A1 is homologous to plant ALDH7B1, an enzyme that protects against various forms of stress, such as salinity, dehydration, and osmotic stress.
Udo Oppermann, Valeria V Orlova, Triantafyllos Chavakis   +2 more
exaly   +2 more sources

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients

Epilepsia, 2009
Purpose: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin
Sidney M Gospe, Craig Bennett
exaly   +2 more sources

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Genetics, 2017
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin ...
Pena Ia, Marc Ekker, David Dyment
exaly   +2 more sources

Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency [PDF]

Journal of Inherited Metabolic Disease
ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (
Youssef Khalil, Philippa Mills
exaly   +2 more sources

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EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1

Experimental Cell Research, 2021
Xiaowei Fu, Jun Meng
exaly  

Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Brain and Development, 2020
Ching-Shiang Chi
exaly  

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

Neurological Sciences, 2015
Ivan Litvinenko, Albena Todorova, Bilyana Georgieva   +2 more
exaly  

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy

Molecular Biology Reports, 2012
Mehdi Fakhfakh, Abdelaziz Tlili
exaly