Article
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
Epilepsy research - 1 Feb 2023
Jamali Ahmed, Kristensen Erle, Tangeraas Trine, Arntsen Vibeke, Sikiric Alma, Kupliauskiene Guste, Myren-Svelstad Sverre, Berland Siren, Sejersted Yngve, Gerstner Thorsten, Hassel Bjørnar, Bindoff Laurence A, Brodtkorb Eylert
Abstract excerpt
BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants. While anti-seizure medications are ineffective, pyridoxine provides seizure control, and dietary interventions may be of benefit. As the natural history beyond adolescence is insufficiently explored, our study aimed to assess the...
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