Results 91 to 100 of about 3,050,482 (146)

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
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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

A case for newborn screening for pyridoxine-dependent epilepsy. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Coughlin CR, Tseng LA, van Karnebeek CDM.   +2 more
europepmc   +1 more source

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency. [PDF]

Int J Mol Sci, 2022
Böhm HO, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Rootwelt H, Skogvold HB, Brodtkorb E, Elgstøen KBP.   +8 more
europepmc   +1 more source

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome

Annals of the Child Neurology Society
Introduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha‐Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen   +6 more
doaj   +1 more source

Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy. [PDF]

Anal Chem, 2021
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J.   +16 more
europepmc   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj