Associated Papers
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.
Bottino M et al.
Molecular Genetics and Metabolism Reports, 2025
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
Patel J et al.
Indian Journal of Pediatrics, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Mathis D et al.
Journal of Inherited Metabolic Disease, 2016
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD et al.
Pediatric Neurology, 2016
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Xue J et al.
Epilepsy Research, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Mefford HC et al.
Neurology, 2015
Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies.
Baumgart A et al.
Journal of Child Neurology, 2014
Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.
Russell KE et al.
Pediatric Neurology, 2012
Variability of phenotype in two sisters with pyridoxine dependent epilepsy.
Alfadhel M et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2012
Novel mutations in pyridoxine-dependent epilepsy.
Millet A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2011
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Scharer G et al.
Journal of Inherited Metabolic Disease, 2010
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.
Bok LA et al.
European Journal of Pediatrics, 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
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Salomons GS et al.
Annals of Neurology, 2007
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B et al.
Human Mutation, 2007