Results 61 to 70 of about 2,887,246 (174)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination [PDF]

, 2015
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.
Mills, Philippa B, Zemel, Matthew, Cook, Joseph, Gospe, Sidney M, Mefford, Heather C, Geraghty, Eileen, Clayton, Peter T, Nordli, Douglas R, Paul, Karl, Plecko, Barbara   +9 more
core   +1 more source

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   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids [PDF]

, 1974
The effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids was studied and the following results were obtained.
Kodama, H., Oura, T., Ikegami, T., Yao, K.   +3 more
core   +1 more source

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]

PLoS ONE, 2014
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin   +7 more
doaj   +1 more source

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31 [PDF]

The American Journal of Human Genetics, 2000
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride. The pathogenesis of PDE is unknown, but an alteration in the binding of pyridoxal 5-phosphate to glutamic acid decarboxylase (GAD) has been postulated in patients ...
Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier   +8 more
openaire   +2 more sources

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

The Microbiome as a Mirror: Distinguishing Healthy Individuals From Chronic Constipated Patients and Identifying Those With Hidden Psychiatric Burden

Microbiota Medicine Research, EarlyView.
Gut microbiota signatures distinguish chronic constipated patients from healthy individuals, supporting noninvasive diagnostic potential. Despite challenges in identifying psychiatric‐related comorbidities, microbial alterations, particularly in neurotransmitter and inflammatory pathways, lay the groundwork for future companion diagnostics and ...
Hongyan Qi, Ting Yu, Weichen Liu, Ya Jiang, Die Chen, Li Gao, Hui Li, Yurong Tang   +7 more
wiley   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Tuschl, Karin, Craigen, William J., De Lonlay, Pascale, Clayton, Peter T., Hemingway, Cheryl, Feillet, François, Marlow, Neil, Mills, Philippa B., Mills, Kevin A., Baxter, Peter, Pike, Mike G., Footitt, Emma J., Aylett, Sarah, Struys, Eduard A., Dulac, Olivier, Schmitt, Bernhard, Varadkar, Sophia, Rennie, Janet, Christensen, Ernst, Hughes, M. Imelda, Nabbout, Rima, Jakobs, Cornelis, Zuberi, Sameer M.   +22 more
core