The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Confirmation of mutations inPROSCas a novel cause of vitamin B6-dependent epilepsy

(2017) Barbara Plecko et al.   JOURNAL OF MEDICAL GENETICS

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy

(2016) Niklas Darin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene

(2016) S. Mercimek-Mahmutoglu et al.   GENE

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

(2016) Curtis R. Coughlin et al.   GENETICS IN MEDICINE

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

(2016) Amal Al Teneiji et al.   METABOLIC BRAIN DISEASE

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

(2016) Clara D.M. van Karnebeek et al.   PEDIATRIC NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

(2015) Curtis R. Coughlin et al.   MOLECULAR GENETICS AND METABOLISM

Intragenic deletions ofALDH7A1in pyridoxine-dependent epilepsy caused byAlu-Alurecombination

(2015) Heather C. Mefford et al.   NEUROLOGY

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet

(2014) Saadet Mercimek-Mahmutoglu et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

(2014) Marion B. Coulter-Mackie et al.   MOLECULAR GENETICS AND METABOLISM

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

(2013) Sunhee Jung et al.   MOLECULAR GENETICS AND METABOLISM

Long-term outcome in pyridoxine-dependent epilepsy

(2012) LEVINUS A BOK et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

(2012) Marion B. Coulter-Mackie et al.   MOLECULAR GENETICS AND METABOLISM

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

(2012) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

(2010) Philippa B. Mills et al.   BRAIN

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

(2010) Levinus A. Bok et al.   EPILEPSIA

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

(2010) Gunter Scharer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Prevalence ofALDH7A1mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

(2008) Craig L. Bennett et al.   EPILEPSIA

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

(2008) Gregory J. Basura et al.   EUROPEAN JOURNAL OF PEDIATRICS