Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology

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

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

(2015) Gaurav K. Varshney et al.   GENOME 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

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

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

aldh7a1 Regulates Eye and Limb Development in Zebrafish

(2014) Holly E. Babcock et al.   PLoS One

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 and antiquitin deficiency

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

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

(2009) Katerina Sadilkova et al.   JOURNAL OF NEUROSCIENCE METHODS

Validation of a larval zebrafish locomotor assay for assessing the seizure liability of early-stage development drugs

(2008) Matthew J. Winter et al.   JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS