Author

C. V. van Karnebeek

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Open access Sep 2026

Drug repurposing of glycerol phenylbutyrate for children with SLC6A1-related neurodevelopmental disorder: A prospective open-label case series.

BACKGROUND SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by intellectual disability, epilepsy, and behavioral difficulties. It is caused by pathogenic variants in SLC6A1, encoding the GABA transporter protein 1 (GAT1). Glycerol phenylbutyrate increases GAT1 expression in preclinical models an...

E. V. van Walree, D. Dekker, J. J. Sprengers et al. · Molecular Genetics and Metab... · 0 citations

Review Open access Aug 2026

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

The findings underscore the value of reviewing all strong genetic variants within a multidisciplinary team setting, facilitating a bidirectional exchange of expertise, which enhances diagnostic accuracy, particularly when the underlying cause of the disease is not immediately apparent.

M. Oud, Elise A. Ferreira, C. V. van Karnebeek et al. · Journal of Inherited Metabol... · 0 citations

Open access Jul 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Downstream regulatory variants are a substantial cause of NKX2-1-RDs and diagnostic strategies should include this regulatory region and systematic structural variant detection, particularly when coding variants have been excluded.

Robin Wijngaard, Lucy Dougherty-de Miguel, G. Demidov et al. · Movement Disorders · 0 citations