Results 41 to 50 of about 1,661 (121)

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

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 Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +1 more source

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

The Turkish Journal of Pediatrics, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
doaj  

Prurigo Pigmentosa – an increasingly diagnosed dermatological condition associated with ketogenic diet

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
SUMMARY Prurigo pigmentosa (PP) is a rare inflammatory dermatosis, clinically characterized by intensely pruritic, erythematous papules and papulovesicles, with reticular hyperpigmentation upon healing. We herein report four cases in adults of different ethnic backgrounds, in which the disease was associated with ketogenic metabolic states due to ...
Antigona Aliu, Milan Vidakovic, Marcel Krauß, Julia Hyun, Frank Oellig, Thilo Gambichler, Valentina Laura Müller, Alexander Kreuter   +7 more
wiley   +1 more source

A new branch of mammalian vitamin B6 metabolism: AKR1C‐mediated conversion of pyridoxal to pyridoxine and 4‐pyridoxolactone

The FEBS Journal, EarlyView.
Pyridoxal 5′‐phosphate (PLP) homeostasis relies on salvage enzymes, yet key metabolic branches remain undefined. We identify AKR1C isozymes as previously undescribed contributors that convert pyridoxal into pyridoxine or 4‐pyridoxolactone through reductase and dehydrogenase activities.
Nayu Kito, Yasuyuki Kitaura, Kyoka Iino, Kazuya Toriumi, Hyunah Noh, Naoya Ogawa, Makoto Arai, Hisashi Hemmi, Tomokazu Ito   +8 more
wiley   +1 more source

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

Clinical Case Reports
Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
doaj   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

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   +1 more source

Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children

Frontiers in Neurology
AimEvaluation of etiology, phenotype, and long-term outcome, and defining the predictors of outcome in children with pyridoxine-responsive seizures.MethodsThe study included all children with pyridoxine-responsive seizures treated in our hospital from ...
Ružica Kravljanac, Biljana Vučetić Tadić, Vladimir Oparnica   +2 more
doaj   +1 more source

Effect of Nutritional Factors on Mental Health Problems in Autism Spectrum Disorder: A Narrative Synthesis of Current Evidence

Brain and Behavior, Volume 16, Issue 7, July 2026.
This narrative synthesis of 21 studies evaluates nutritional interventions for psychiatric comorbidities in ASD. Vitamin D3, omega‐3 fatty acids, and probiotics show preliminary benefits for anxiety and irritability, whereas GFCF diet results remain inconclusive.
Nalan Hakime Nogay, Gulin Ozturk Ozkan
wiley   +1 more source