Results 71 to 80 of about 3,050,482 (146)
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 +7 more
wiley +1 more source
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures
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 +5 more
core +1 more source
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 +3 more
wiley +1 more source
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 +5 more
doaj +1 more source
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 +22 more
wiley +1 more source
Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis
Epilepsia Open, Volume 11, Issue 5, Page 1886-1887, October 2026.
Raffaele Falsaperla +2 more
wiley +1 more source
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
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 +4 more
wiley +1 more source
Phenotypic Variability of Pyridoxine-Dependent Epilepsy
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine.
Ülgenalp, Ayfer +2 more
core
Current diagnosis and treatment of pyridoxine dependent epilepsy due to antiqutin deficiency [PDF]
Drgawki pirydoksynozależne (pyridoxine-dependent epilepsy – PDE) to rzadko występująca encefalopatia padaczkowa uwarunkowana autosomalnie recesywnie. Charakteryzuje się uporczywymi, nawracającymi drgawkami u noworodków i niemowląt, nieodpowiadającymi na ...
Dariusz Rokicki +5 more
core +1 more source
Movement Disorders, Volume 41, Issue 9, Page 2535-2537, September 2026.
Aida Shaghaghi‐Zadeh +8 more
wiley +1 more source

