Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study

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

(2019) Curtis R. Coughlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

(2018) Virginia Navarro-Abia et al.   BRAIN & DEVELOPMENT

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

(2018) Irene Toldo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1

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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

(2018) Devon L Johnstone et al.   BRAIN

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

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

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

(2017) Emanuele G. Coci et al.   MOLECULAR AND CELLULAR PROBES

Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability

(2017) Sanmei Wang et al.   Experimental and Therapeutic Medicine

A 15-year-old with seizures: late diagnosis of pyridoxine-dependent epilepsy

(2016) Debopam Samanta   ACTA NEUROLOGICA BELGICA

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 novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine

(2016) Tatiana Yuzyuk et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Pyridoxine-dependent epilepsy: report on three families with neuropathology

(2016) Florent Marguet et al.   METABOLIC BRAIN DISEASE

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

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

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

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

A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients

(2015) Jiao Xue et al.   EPILEPSY RESEARCH

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

Callosal alterations in pyridoxine-dependent epilepsy

(2014) Seth D Friedman et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants

(2014) Zhixian Yang et al.   PLoS One

Long-term outcome in pyridoxine-dependent epilepsy

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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

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