Results 101 to 110 of about 3,050,532 (174)

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

Early Pyridoxine Administration to Avoid Late Diagnosis of Pyridoxine-Dependent Epilepsy; Comment on the ILAE Guidelines Proposal on the Treatment of Seizures in the Neonate

The ILAE Task Force on Neonatal Seizures has recently published consensus-based guidelines and recommendations for the treatment of neonatal seizures (https://www.ilae.org/guidelines/guidelines-and-reports/treatment-of-seizures-in-the-neonateguidelines ...
Falsaperla, Raffaele, Scalia, Bruna
core   +1 more source

A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy [PDF]

Annals of Child Neurology, 2022
Minsun Ryu, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source

A rare case of early onset vitamin B6 dependent epilepsy [PDF]

Pyridoxine dependent epilepsy (PDE) is a rare seizure disorder which manifests in neonatal period, but can be manifested in early infancy also. Seizures are seen in the first month of life in the classical form, but in the atypical form they don\u27t ...
Singh, Vinaya, Thorat, Rohit, Ansari, Qudsiya, Sarkate, Akash, Randad, Kailas   +4 more
core   +1 more source

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation

, 2019
In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to ...
Lugli L., Ferrari F., Berardi A., Lucaccioni L., Ori L., Bariola M. C.   +5 more
core   +1 more source

Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation. [PDF]

Mov Disord Clin Pract, 2023
Saini L, Krishna D, Gunasekaran PK, Tiwari S, Kumar P.   +4 more
europepmc   +1 more source

Pyridoxine-dependent epilepsy [PDF]

, 2020
openaire   +1 more source