Results 11 to 20 of about 426 (124)

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1) [PDF]

Annals of Neurology, 2007
AbstractRecently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal‐onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but ...
Salomons, G.S., Bok, L.A., Struys, E.A., Pope, L.L., Darmin, P.S., Mills, P.B., Clayton, P.T., Willemsen, M.A.A.P., Jakobs, C.   +8 more
core   +6 more sources

Pyridoxine Responsiveness and PNPO Gene Mutations

Pediatric Neurology Briefs, 2014
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin ...
J Gordon Millichap, John J Millichap
doaj   +2 more sources

The measurement of urinary Δ¹‐piperideine‐6‐carboxylate, the alter ego of α‐aminoadipic semialdehyde, in Antiquitin deficiency [PDF]

Journal of Inherited Metabolic Disease, 2012
AbstractThe assessment of urinary α‐aminoadipic semialdehyde (α‐AASA) has become the diagnostic laboratory test for pyridoxine dependent seizures (PDS). α‐AASA is in spontaneous equilibrium with its cyclic form Δ1‐piperideine‐6‐carboxylate (P6C); a molecule with a heterocyclic ring structure. Ongoing diagnostic screening and monitoring revealed that in
Struys, E.A., Bok, L.A., Emal, D., Houterman, S., Willemsen, M.A.A.P., Jakobs, C.   +5 more
openaire   +6 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   +2 more sources

Cloning of the black seabream (Acanthopagrus schlegeli) antiquitin gene and functional characterization of its promoter region

Molecular and Cellular Biochemistry, 2006
Antiquitin (ALDH7) is a member of the aldehyde dehydrogenase superfamily. In plants, ALDH7 is inducible upon dehydration and is thus believed to possess an osmoregulatory role. On the other hand, however, its exact physiological function in animals remains elusive.
Fong, Wing Ping, Tang, Wai Kwan, Cheng, Christopher H K, Chan, Chi Bun   +3 more
core   +6 more sources

Pyridoxine dependent epilepsy and antiquitin deficiency

Molecular Genetics and Metabolism, 2011
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure control most patients have intellectual disability. Folinic acid responsive seizures (FARS) are genetically identical to ATQ deficiency.
Sylvia Stockler, Barbara Plecko, Sidney M. Gospe, Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein, Cornelis Jakobs, Peter Clayton, Johan L.K. Van Hove   +13 more
core   +5 more sources

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia [PDF]

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, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +2 more sources

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings

Neuropediatrics, 2018
AbstractAntiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female
Srinivasaraghavan, Rangan, Parameswaran, Narayanan, Mathis, Deborah, Bürer, Celine, Plecko, Barbara   +4 more
openaire   +5 more sources

Arabidopsis and tobacco plants ectopically expressing the soybean antiquitin-like ALDH7 gene display enhanced tolerance to drought, salinity, and oxidative stress [PDF]

Journal of Experimental Botany, 2006
Despite extensive studies in eukaryotic aldehyde dehydrogenases, functional information about the ALDH7 antiquitin-like proteins is lacking. A soybean antiquitin homologue gene, designated GmTP55, has been isolated which encodes a dehydrogenase motif-containing 55 kDa protein induced by dehydration and salt stress.
Simone M, Rodrigues, Maxuel O, Andrade, Ana Paula Soares, Gomes, Fabio M, Damatta, Maria C, Baracat-Pereira, Elizabeth P B, Fontes   +5 more
openaire   +4 more sources

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency – A cohort study

Molecular Genetics and Metabolism
Pyridoxine dependent epilepsy due to Antiquitin deficiency (PDE-ALDH7A1) is a disorder of lysine catabolism that results in accumulation of α- aminoadipic semialdehyde (α-AASA) and Δ1-piperideine 6-carboxylic acid (P6C). It is hypothesised that these metabolites are neurotoxic and that chronic exposure may have detrimental long-term effects ...
Emma J, Footitt, Chloe, Millington, Imogen, Newsom-Davis, Philippa, Mills, Youssef, Khalil, Peter T, Clayton, Marjorie, Dixon   +6 more
core   +4 more sources