Results 81 to 90 of about 3,050,482 (146)

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
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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

Pyridoxine-dependent epilepsy initially responsive to phenobarbital Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital

Arquivos de Neuro-Psiquiatria, 2007
Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine.
Jaime Lin, Katia Lin, Marcelo Rodrigues Masruha, Luiz Celso Pereira Vilanova   +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

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2023
Fortin O, Christoffel K, Kousa Y, Miller I, Leon E, Donoho K, Mulkey SB, Anwar T.   +7 more
europepmc   +1 more source

Amplitude-integrated encephalography in pyridoxine-dependent seizures and pyridoxine-responsive seizures.

, 2002
Pyridoxine-dependent seizures are rare in newborn infants, although recent data suggest that the prevalence probably is underestimated. In all newborn infants with recurrent epileptic seizures the general recommendation is to administer pyridoxine and ...
Hellström-Westas, Lena, Blennow, Gösta, Rosén, Ingmar, G Blennow, Rosén, Ingmar,, L Hellström-Westas, Hellström-Westas, Lena,, Blennow, Gösta,, Lund University., I Rosén   +9 more
core   +1 more source

Pyridoxal Phosphate-Responsive Epilepsy with Resistance to Pyridoxine

, 2009
We present a female infant with seizures responsive to pyridoxal phosphate but that are resistant to pyridoxine. The mechanism by which pyridoxal phosphate controls seizures in this patient is unknown.
KUO, MENG-FAI, 郭夢菲
core  

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source