Cargando…

Diagnosis and management of cerebral folate deficiency: A form of folinic acid-responsive seizures

Folinic acid-responsive seizures (FARS) are a rare treatable cause of neonatal epilepsy. They have characteristic peaks on CSF monoamine metabolite analysis, and have mutations in the ALDH7A1 gene, characteristically found in pyridoxine-dependent epilepsy. There are case reports of patients presenti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Baradie, Raidah S., Chudary, Mohammed W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Riyadh : Armed Forces Hospital 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727671/ https://www.ncbi.nlm.nih.gov/pubmed/25274592

Ejemplares similares

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings
por: Ferreira, Patrick, et al.
Publicado: (2015)

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
por: Quijada-Fraile, Pilar, et al.
Publicado: (2014)

Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis
por: Rossignol, Daniel A., et al.
Publicado: (2021)

The role of ketogenic diet in controlling epileptic seizures
por: Al-Baradie, Raidah S., et al.
Publicado: (2021)

Folic Acid, Folinic Acid, 5 Methyl TetraHydroFolate Supplementation for Mutations That Affect Epigenesis through the Folate and One-Carbon Cycles
por: Menezo, Yves, et al.
Publicado: (2022)

The cost of folinic acid.
por: Healy, J. B.
Publicado: (1990)

4th Annual Saudi Epilepsy Society Conference & the First Saudi International Stereotactic and FunctionalNeurosurgery ConferenceRiyadh, Saudi ArabiaNovember 26-27, 2014
por: Al-Baradie, Raidah S.
Publicado: (2015)

The 68(th) American Epilepsy Society Annual Meeting Seattle (WA), USA, December 5-9, 2014
por: Al-Baradie, Raidah S.
Publicado: (2015)

The 5th Annual Saudi Epilepsy Society Conference, 1st GCC Epilepsy Conference, 2nd Joined Emirate Saudi Epilepsy Conference, 8th Annual Eastern Province Epilepsy Conference, 14th Annual Saudi Chapter of Epilepsy Conference7-9th November 2015, Dammam, Saudi Arabia,
por: Al-Baradie, Raidah S.
Publicado: (2016)

Characterization of folic acid, 5-methyltetrahydrofolate and synthetic folinic acid in the high-affinity folate transporters: impact on pregnancy and development
por: Palacios, Ana M., et al.
Publicado: (2022)

Ataxia-telangiectasia: future prospects
por: Chaudhary, Mohammed Wajid, et al.
Publicado: (2014)

Epileptic Encephalopathies: An Overview
por: Khan, Sonia, et al.
Publicado: (2012)

Correction: Rossignol, D.A.; Frye, R.E. Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. J. Pers. Med. 2021, 11, 1141
por: Rossignol, Daniel A., et al.
Publicado: (2022)

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
por: Ramaekers, Vincent Th., et al.
Publicado: (2022)

Use of Cyclophosphamide in a Child With Fulminant Acute Disseminated Encephalomyelitis
por: Ayed, Hana, et al.
Publicado: (2018)

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl
por: Pappalardo, Maria Grazia, et al.
Publicado: (2022)

Critical factors for the reversal of methotrexate cytotoxicity by folinic acid.
por: Bernard, S., et al.
Publicado: (1991)

5-Fluorouracil and folinic acid: interesting biochemistry or effective treatment?
por: Kerr, D. J.
Publicado: (1989)

Oral Tegafur/folinic acid chemotherapy decreases phenytoin efficacy
por: Veldhorst-Janssen, N M L, et al.
Publicado: (2004)

FOLINIC ACID AND NON-DIALYZABLE MATERIALS IN THE NUTRITION OF MALARIA PARASITES
por: Trager, William
Publicado: (1958)

Effects of leucovorin (folinic acid) in the methotrexate-treated rat brain
por: OGUSHI, Naofumi, et al.
Publicado: (2018)

Pediatric awake epilepsy surgery: Intraoperative language mapping utilizing digital video gaming and electrocorticography
por: Alotaibi, Faisal, et al.
Publicado: (2021)

Efficacy and Safety of Ferrous Bisglycinate and Folinic Acid in the Control of Iron Deficiency in Pregnant Women: A Randomized, Controlled Trial
por: Bumrungpert, Akkarach, et al.
Publicado: (2022)

Treatment of neuroendocrine tumours with infusional 5-fluorouracil, folinic acid and streptozocin
por: Gonzalez, M A, et al.
Publicado: (2003)

A pharmacokinetic comparison of intravenous versus intra-arterial folinic acid.
por: Anderson, J. H., et al.
Publicado: (1992)

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells
por: Esse, Ruben, et al.
Publicado: (2018)

Fluorouracil/folinic acid/oxaliplatin: Various toxicities: 2 case reports
Publicado: (2021)

Colon Cancer Cells Gene Expression Signature As Response to 5- Fluorouracil, Oxaliplatin, and Folinic Acid Treatment
por: Negrei, Carolina, et al.
Publicado: (2016)

Quality of Life and the Perceived Impact of Epilepsy in Children and Adolescents in the Eastern Province of the Kingdom of Saudi Arabia
por: Horaib, Wesal, et al.
Publicado: (2021)

Vitamin B12 Deficiency and Elevated Folate Levels: An Unusual Cause of Generalized Tonic-Clonic Seizure
por: Lubana, Sandeep Singh, et al.
Publicado: (2015)

5-fluorouracil and folinic acid-induced mucositis: no effect of oral glutamine supplementation.
por: Jebb, S. A., et al.
Publicado: (1994)

Effects of Folinic Acid Administration on Lower Limb Ischemia/Reperfusion Injury in Rats
por: Cearra, Iñigo, et al.
Publicado: (2021)

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
por: Mafi, Sarah, et al.
Publicado: (2020)

Panitumumab Plus Fluorouracil and Folinic Acid Versus Fluorouracil and Folinic Acid Alone as Maintenance Therapy in RAS Wild-Type Metastatic Colorectal Cancer: The Randomized PANAMA Trial (AIO KRK 0212)
por: Modest, Dominik Paul, et al.
Publicado: (2022)

Excessive Folic Acid Mimics Folate Deficiency in Human Lymphocytes
por: Alnabbat, Khadijah I., et al.
Publicado: (2022)

Absorption and Tissue Distribution of Folate Forms in Rats: Indications for Specific Folate Form Supplementation during Pregnancy
por: Bobrowski-Khoury, Natasha, et al.
Publicado: (2022)

Effect of paternal folate deficiency on placental folate content and folate receptor α expression in rats
por: Kim, Hye Won, et al.
Publicado: (2011)

Phase I trial of oxaliplatin with fluorouracil, folinic acid and concurrent radiotherapy for oesophageal cancer
por: Conroy, T, et al.
Publicado: (2008)

KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency
por: Han, Xiao, et al.
Publicado: (2022)

Brain Uptake of Folate Forms in the Presence of Folate Receptor Alpha Antibodies in Young Rats: Folate and Antibody Distribution
por: Bobrowski-Khoury, Natasha, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_0l4vsabdvmqkt1iam44rnlpdou