Clara D. M. Van Karnebeek

2-Aminoadipic Semialdehyde Synthase Inhibition

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

Clara D. M. Van Karnebeek

• Jan 1, 2025 • 1 min read

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines

Marjorie Dixon

• May 1, 2024 • 1 min read

Aldehyde Dehydrogenase

Clinical Reasoning: Pediatric Seizures of Unknown Cause

Laura A. Tseng

• Jun 1, 2022 • 1 min read

Activities of Daily Living

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

Laura A. Tseng

• Apr 1, 2022 • 1 min read

Aldehyde Dehydrogenase

A case for newborn screening for pyridoxine-dependent epilepsy

Curtis R. Coughlin

• Feb 1, 2022 • 1 min read

Aldehyde Dehydrogenase

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

Curtis R. Coughlin

• Jan 1, 2021 • 1 min read

2-Aminoadipic Acid

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

Curtis R. Coughlin

• Mar 1, 2019 • 1 min read

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

Clara D. M. Van Karnebeek

• Jun 1, 2016 • 1 min read

Alpha Aminoadipic Semialdehyde

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

Curtis R. Coughlin

• Jan 1, 2015 • 1 min read

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Clara D. M. Van Karnebeek

• Jan 1, 2014 • 1 min read