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

Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy

(2016) Tatiana Yuzyuk et al.   MOLECULAR GENETICS AND METABOLISM

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1

(2016) Muhammad Mahajnah et al.   PEDIATRIC NEUROLOGY

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

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

(2015) Saadet Mercimek-Mahmutoglu et al.   Orphanet Journal of Rare Diseases

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

Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused byALDH7A1 Mutations

(2014) Enas Nasr et al.   JOURNAL OF CHILD NEUROLOGY

Fetal Onset Ventriculomegaly and Subependymal Cysts in a Pyridoxine Dependent Epilepsy Patient

(2014) S. Jain-Ghai et al.   PEDIATRICS

Long-term outcome in pyridoxine-dependent epilepsy

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

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

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

Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy

(2012) S. Mercimek-Mahmutoglu et al.   PEDIATRICS

Pyridoxine dependent epilepsy and antiquitin deficiency

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

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

(2010) Philippa B. Mills et al.   BRAIN

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

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