van Karnebeek CDM

Latest

• A case for newborn screening for pyridoxine-dependent epilepsy
• Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
• Clinical Reasoning: Pediatric Seizures of Unknown Cause
• Timing of therapy and neurodevelopmental outcomes in 18 families with 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 alpha-aminoadipic semialdehyde dehydrogenase deficiency
• The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy