Results 21 to 30 of about 423 (120)

Folinic Acid Responsive Epilepsy in Ohtahara Syndrome

Pediatric Neurology Briefs, 2014
Investigators at Queen Mary Hospital, Hong Kong, report a case of Ohtahara syndrome with transient folinic acid responsiveness but without evidence of antiquitin dysfunction in a girl later found to have a known STXBP1 mutation.
J Gordon Millichap, John J Millichap
doaj   +2 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   +2 more sources

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player? [PDF]

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +2 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

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

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

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   +2 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

An Ancient Conserved Gene Expressed in the Human Inner Ear: Identification, Expression Analysis, and Chromosomal Mapping of Human and Mouse Antiquitin (ATQ1)

Genomics, 1997
We constructed and screened a human fetal cochlear cDNA library to identify genes involved in hearing and deafness. From this library we isolated a cDNA corresponding to the highly conserved ancient gene antiquitin (ATQ1). The plant homolog of ATQ1 is thought to be involved in regulating turgor pressure, a function that also would be essential for ...
Skvorak, A B, Robertson, N G, Yin, Y, Weremowicz, S, Her, H, Bieber, F R, Beisel, K W, Lynch, E D, Beier, D R, Morton, C C; id_orcid 0000-0003-2198-6756   +9 more
openaire   +4 more sources