Associated Papers
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.
Kaminiów K et al.
Brain Sciences, 2021
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR et al.
Journal of Inherited Metabolic Disease, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Gibaud M et al.
Frontiers in Pediatrics, 2021
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR et al.
Journal of Inherited Metabolic Disease, 2019
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Toldo I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Al Teneiji A et al.
Metabolic Brain Disease, 2017
Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.
Pena IA et al.
Expert Review of Endocrinology & Metabolism, 2017
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Marguet F et al.
Metabolic Brain Disease, 2016
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD et al.
Pediatric Neurology, 2016
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
Jansen LA et al.
Annals of Neurology, 2014
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B et al.
Epilepsia, 2013
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.
Proudfoot M et al.
Jimd Reports, 2013
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Scharer G et al.
Journal of Inherited Metabolic Disease, 2010
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB et al.
Brain : a Journal of Neurology, 2010
Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
Sadilkova K et al.
Journal of Neuroscience Methods, 2009
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Rosenberg EH et al.
Molecular Genetics and Metabolism, 2009
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Bennett CL et al.
Epilepsia, 2009
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Gallagher RC et al.
Annals of Neurology, 2009
Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.
Kaczorowska M et al.
Journal of Child Neurology, 2008
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Salomons GS et al.
Annals of Neurology, 2007