Results 71 to 80 of about 1,711 (154)

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

JIMD Reports, 2020
Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam   +5 more
doaj   +1 more source

Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2005
Contains fulltext : 49173.pdf (Publisher’s version ) (Open Access)
Willemsen, M.A.A.P., Mavinkurve-Groothuis, A.M.C., Wevers, R.A., Rotteveel, J.J., Jakobs, C.   +4 more
openaire   +2 more sources

Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis

Epilepsia Open, EarlyView.
Raffaele Falsaperla, Vincenzo Sortino, Georgia Ramantani   +2 more
wiley   +1 more source

Do We Need to Monitor B‐Vitamins and Homocysteine During Initiation of Foslevodopa/Foscarbidopa Therapy?

Movement Disorders, EarlyView.
Aida Shaghaghi‐Zadeh, Matthias Höllerhage, Florian Wegner, Lan Ye, Ishana Schneidereit, Tobias Hegelmaier, Rebecca Jacob, Christoph Schrader, Martin Klietz   +8 more
wiley   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Pyridox(am)ine‐5′‐phosphate oxidase (PNPO) deficiency is characterized by early‐onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the PNPO gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine‐5′‐phosphate and pyridoxamine‐5′‐phosphate (two vitamers of ...
Chloé de Puyraimond, Samia Pichard, Muriel Girard, Julian Delanne, Laurence Faivre, Apolline Imbard, Amandine Baurand, Jean‐François Benoist, Philippa B. Mills, Peter T. Clayton, Manuel Schiff   +10 more
wiley   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
wiley   +1 more source

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology & Metabolism, 2016
Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition characterized by intractable and recurrent neonatal seizures that are uniquely alleviated by high doses of pyridoxine (vitamin B6). This recessive disease is caused by mutations in ALDH7A1, a gene encoding Antiquitin, an enzyme central to lysine degradation.
Pena, Izebella Agostinho, Mackenzie, Alex, van Karnebeek, Clara D. M.   +2 more
openaire   +2 more sources

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

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