Epilepsy

Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology

This paper alighted epilepsy heiarchy in MONDO with the International Leaague Against Epilepsy (ILAE) classification system

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