Results 81 to 90 of about 3,050,532 (174)

Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2005
Contains fulltext : 49173.pdf (Publisher’s version ) (Open Access)
Willemsen, M.A.A.P., Mavinkurve-Groothuis, A.M.C., Wevers, R.A., Rotteveel, J.J., Jakobs, C.   +4 more
openaire   +2 more sources

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, Volume 67, Issue 9, Page 4600-4617, September 2026.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadjinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Ergothioneine: Biosynthesis, Molecular Mechanisms, Physiological Function, and Role in Disease

MedComm, Volume 7, Issue 9, September 2026.
Ergothioneine is a natural thione antioxidant with significant biomedical potential. By reducing oxidative stress, inflammation, mitochondrial dysfunction, and cellular injury, ergothioneine may support interventions for aging‐related disorders, neurodegeneration, metabolic diseases, and skin protection.
Guojuan Yi, Dongping Yao, Chanjuan Dong, Xiao Tu, Guojian Liao, Mengfei Long, Yongmei Xie   +6 more
wiley   +1 more source

Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2014
ObjectiveA high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by mutations inALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown.
Laura A, Jansen, Robert F, Hevner, William H, Roden, Si Houn, Hahn, Sunhee, Jung, Sidney M, Gospe   +5 more
openaire   +2 more sources

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy

, 2023
Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE).
Leon, Eyby, Mulkey, Sarah B, Kousa, Youssef, Miller, Ilana, Anwar, Tayyba, Fortin, Olivier, Christoffel, Kelsey, Donoho, Kelsey   +7 more
core  

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

Microbiota Medicine Research, Volume 1, Issue 3, Page 91-106, September 2026.
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

Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures

, 2012
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. PDE patients are typically resistant to anti-epileptic treatment but respond to the administration of pyridoxine.
Yeghiazaryan NS, Brigati G, Falsaperla R, Capovilla G, Zara F, Striano P   +5 more
core   +1 more source

Washed Microbiota Transplantation Improves Chronic‐Phase Febrile Infection‐Related Epilepsy Syndrome: The First Case Report With Long‐Term Follow‐Up and Integrated Multi‐Omics Analysis

Microbiota Medicine Research, Volume 1, Issue 3, Page 107-115, September 2026.
ABSTRACT Background Febrile infection‐related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy. Survivors often enter a chronic phase characterized by drug‐resistant epilepsy, cognitive impairment, behavioral and psychiatric symptoms, and long‐term functional disability.
Qianqian Li, Xiao Ding, Sheng Zhang, Faming Zhang   +3 more
wiley   +1 more source

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

JIMD Reports, 2020
Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam   +5 more
doaj   +1 more source

The gut microbiome organ

iMeta, Volume 5, Issue 4, August 2026.
The gut microbiome can be conceptualized as a distributed organ‐like functional system with spatially structured organization, broad biochemical capacity, and continuous bidirectional communication with the host. By transforming dietary, host‐derived, and environmental substrates into bioactive metabolites with endocrine‐like, immunomodulatory, and ...
Yang Bi, Weibin Song, Maria Glymenaki, Jie Hu, Xiru Li, Heng Huang, Yousong Peng, Shuaishuai Ni, Ornuma Haonon, Zhu Liu, Krai Daowtak, Xiaotao Shen, Huadong Peng, Jutarop Phetcharaburanin, Huiru Tang, Yulan Wang, Jia V. Li, Mizu Jiang, Nick Powell, Victor W. Zhong, Elaine Holmes, Yunlei Xianyu, Zhigang Liu   +22 more
wiley   +1 more source