Results 91 to 100 of about 3,050,532 (174)

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology & Metabolism, 2016
Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition characterized by intractable and recurrent neonatal seizures that are uniquely alleviated by high doses of pyridoxine (vitamin B6). This recessive disease is caused by mutations in ALDH7A1, a gene encoding Antiquitin, an enzyme central to lysine degradation.
Pena, Izebella Agostinho, Mackenzie, Alex, van Karnebeek, Clara D. M.   +2 more
openaire   +2 more sources

Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis

Epilepsia Open, Volume 11, Issue 5, Page 1886-1887, October 2026.
Raffaele Falsaperla, Vincenzo Sortino, Georgia Ramantani   +2 more
wiley   +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

Current diagnosis and treatment of pyridoxine dependent epilepsy due to antiqutin deficiency [PDF]

, 2016
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, Wesół-Kucharska, Dorota, Dorota Wesół-Kucharska, Rokicki, Dariusz, Rokicki, Dariusz; Klinika Pediatrii, Żywienia i Chorób Metabolicznych, Instytut "Pomnik – Centrum Zdrowia Dziecka" w Warszawie, Wesół-Kucharska, Dorota; Klinika Pediatrii, Żywienia i Chorób Metabolicznych, Instytut "Pomnik – Centrum Zdrowia Dziecka" w Warszawie   +5 more
core   +1 more source

Do We Need to Monitor B‐Vitamins and Homocysteine During Initiation of Foslevodopa/Foscarbidopa Therapy?

Movement Disorders, Volume 41, Issue 9, Page 2535-2537, September 2026.
Aida Shaghaghi‐Zadeh, Matthias Höllerhage, Florian Wegner, Lan Ye, Ishana Schneidereit, Tobias Hegelmaier, Rebecca Jacob, Christoph Schrader, Martin Klietz   +8 more
wiley   +1 more source

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.

, 2010
Contains fulltext : 89020.pdf (Publisher’s version ) (Open Access)PURPOSE: Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine.
Hoeven, J.H. van, Hagebeuk, Eveline E, Maurits, Natasha M, Willemsen, M.A.A.P., Toet, MC, Maurits, NM, Jakobs, Cornelis, Jakobs, C, Teune, Laura K, Bwee Tien Poll-The, Willemsen, MA, Sival, D.A., Willemsen, Michèl A, Brouwer, O.F., Poll-The, B.T., Irenaeus F. De Coo, Hagebeuk, EE, Bok, LA, Bok, Levinus A, Laura K. Teune, Johannes H. Van Der Hoeven, Brouwer, Oebele F, Teune, L.K., Toet, Mona C, Natasha M. Maurits, Sival, Deborah A, van der Hoeven, Johannes H, Levinus A. Bok, Toet, M.C., Coo, I.F.M. de, Oebele F. Brouwer, Brouwer, OF, Hagebeuk, E.E., Poll-The, BT, Sival, DA, de Coo, Irenaeus F, Eveline E. Hagebeuk, Poll-The, Bwee Tien, Mona C. Toet, Coo, IFM, Teune, LK, Jakobs, C., Michèl A. Willemsen, Cornelis Jakobs, Maurits, N.M., Deborah A. Sival, Maurits, Natasha M; id_orcid, Bok, L.A., van der Hoeven, JH   +48 more
core   +1 more source

Refractory Seizures in a Neonate with a Rare Coexistence of Variants in Both ALDH7A1 and RHOBTB2 Genes

Indian Pediatrics Case Reports
Background: Pyridoxine-dependent epilepsy due to ALDH7A1 gene mutation is a known, but rare autosomal recessive disorder, presenting with early-onset, refractory seizures.
Kavya Rajanna, Mohit Ajmera, Swati Mehta, J. Suraj Kumar   +3 more
doaj   +1 more source

Is Vitamin B6 a Precision Therapy for Neonatal Seizures?

Neurology International
Background: Neonatal seizures are critical neurological events with long-term implications for brain development. Standard antiseizure medications, such as phenobarbital, often yield suboptimal seizure control and may be associated with neurotoxicity ...
Raffaele Falsaperla, Vincenzo Sortino, Bruna Scalia, Marco Andrea Nicola Saporito   +3 more
doaj   +1 more source

Epidemiology of pyridoxine dependent seizures in the Netherlands.

, 2005
Item does not contain fulltextBACKGROUND: Pyridoxine dependent epilepsy is a rare cause of seizures in childhood. The diagnosis is made on clinical criteria, that in many cases are never met.
Been, J.V., Andriessen, P., Renier, W.O., Bok, L.A.   +3 more
core   +1 more source

Early diagnosis of pyridoxine-dependent epilepsy: Video-EEG monitoring and biochemical and genetic investigation

, 2013
International audiencePyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome
Marignier, Stéphanie, Des Portes, Vincent, Ginguene, Carole, Vile, Dorothee, de Bellescize, Jullita   +4 more
core   +1 more source