Epilepsy

Metabolic Epilepsies

We aim to understand the mechanism of metabolic epilepsies and to identify shared clinical outcome measures that can faciliate clinical trial designs.

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

A case for newborn screening for pyridoxine-dependent epilepsy

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Pyridoxine-dependent epilepsy is more than just epilepsy

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

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