Current Treatment and Management of Pyridoxine-Dependent Epilepsy

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

(2014) P. B. Mills et al.   BRAIN

Program and Abstracts for the SIMD Annual Meeting

(2014)   MOLECULAR GENETICS AND METABOLISM

Pyridoxine responsiveness in novel mutations of the PNPO gene

(2014) B. Plecko et al.   NEUROLOGY

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option

(2013) Belén Pérez et al.   EPILEPSIA

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

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

(2012) Philippa B. Mills et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cultural aspects in the management of inborn errors of metabolism

(2012) Sylvia Stockler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

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

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

(2012) Stefan Kölker 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

Pyridoxine-dependent Epilepsy With Elevated Urinary  -Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

(2012) E. A. Struys et al.   PEDIATRICS

Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?

(2011) HANS HARTMANN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Diagnosis and management of glutaric aciduria type I – revised recommendations

(2011) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

(2010) Sven W. Sauer et al.   BRAIN

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

(2010) Philippa B. Mills et al.   BRAIN

PYRIDOXINE-DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENT

(2010) P. Baxter et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

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

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

(2009) Renata C. Gallagher et al.   ANNALS OF NEUROLOGY

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

(2009) Levinus A. Bok et al.   EUROPEAN JOURNAL OF PEDIATRICS

Pyridoxine-dependent Epilepsy: Normal Outcome in a Patient with Late Diagnosis after Prolonged Status Epilepticus Causing Cortical Blindness

(2009) G. Kluger et al.   NEUROPEDIATRICS

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