review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0887-8994(01)00407-6 |
P698 | PubMed publication ID | 11955923 |
P2093 | author name string | Sidney M Gospe | |
P2860 | cites work | Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome | Q30726340 |
CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control | Q32065860 | ||
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31 | Q34144208 | ||
Pyridoxine-dependent and pyridoxine-responsive seizures | Q34284735 | ||
Global brain dysfunction in an infant with pyridoxine dependency: evaluation with EEG, evoked potentials, MRI, and PET. | Q34396145 | ||
Pyridoxine dependent seizures--a wider clinical spectrum | Q35116678 | ||
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. | Q35265153 | ||
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern | Q35288588 | ||
Familial intrauterine convulsions in pyridoxine dependency | Q36061385 | ||
Pyridoxine-dependent seizures, clinical and therapeutic aspects | Q37372916 | ||
Vitamin B6 safety issues | Q37934243 | ||
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter | Q40944535 | ||
Anticonvulsant activity of muscimol and gamma-aminobutyric acid against pyridoxal phosphate-induced epileptic seizures | Q42274056 | ||
Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine | Q43642894 | ||
Current perspectives on pyridoxine-dependent seizures | Q43681492 | ||
Vitamin B6-dependent seizures: Pathology and chemical findings in brain | Q44266537 | ||
Longitudinal MRI findings in pyridoxine-dependent seizures | Q44493668 | ||
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up | Q44932640 | ||
Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans | Q45065812 | ||
Influence of pipecolic acid on the release and uptake of [3H]GABA from brain slices of mouse cerebral cortex | Q45115574 | ||
Reduced GABA synthesis in pyridoxine-dependent seizures. | Q45961418 | ||
A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation | Q47303396 | ||
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy | Q47989182 | ||
Long-term follow-up of an individual with vitamin B6-dependent seizures | Q48232862 | ||
Treatment of infantile spasms with high-dosage vitamin B6. | Q48258367 | ||
Disturbance of GABA metabolism in pyridoxine-dependent seizures | Q48422865 | ||
Proconvulsant effects induced by pyridoxine in young rats | Q48486075 | ||
Long-term follow-up of vitamin B(6)-responsive West syndrome. | Q52164287 | ||
A paradoxical rise of neonatal seizures after treatment with vitamin B6. | Q54058236 | ||
Vitamin B6 and valproic acid in treatment of infantile spasms | Q68242456 | ||
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants | Q70068448 | ||
Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion | Q71698865 | ||
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy | Q72236282 | ||
Pyridoxal-5'-phosphate concentration as marker for vitamin-B6-dependent seizures in the newborn | Q72589329 | ||
Pyridoxine-dependent seizures associated with white matter abnormalities | Q72619376 | ||
Neonatal seizures after pyridoxine use | Q73356545 | ||
Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children | Q73728194 | ||
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures | Q74047788 | ||
Variable expression of RFC1 in human leukemia cell lines resistant to antifolates | Q74308899 | ||
A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration | Q77075804 | ||
ACTH therapy for infantile spasms: a combination therapy with high-dose pyridoxal phosphate and low-dose ACTH | Q77298747 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P1104 | number of pages | 5 | |
P304 | page(s) | 181-185 | |
P577 | publication date | 2002-03-01 | |
P1433 | published in | Pediatric Neurology | Q15752159 |
P1476 | title | Pyridoxine-dependent seizures: findings from recent studies pose new questions | |
P478 | volume | 26 |
Q44516120 | A carrier-mediated mechanism for pyridoxine uptake by human intestinal epithelial Caco-2 cells: regulation by a PKA-mediated pathway |
Q94570344 | A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations |
Q34618996 | Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis |
Q45934648 | Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. |
Q34577156 | Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene |
Q39204634 | Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option |
Q39044733 | Current treatment and management of pyridoxine-dependent epilepsy |
Q46630788 | Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures |
Q33725184 | Intestinal absorption of water-soluble vitamins in health and disease |
Q38273909 | Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder |
Q26744759 | Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder |
Q37398715 | New treatment paradigms in neonatal metabolic epilepsies |
Q44704345 | Pharmacorefractory status epilepticus due to low vitamin B6 levels during pregnancy |
Q33861605 | Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy |
Q46150144 | Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy |
Q35283488 | Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy |
Q34195320 | Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up |
Q46062329 | Pyridoxine uptake by colonocytes: a specific and regulated carrier-mediated process |
Q46840174 | Pyridoxine-dependent epilepsy initially responsive to phenobarbital |
Q24616654 | The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 |