Author

J. Schieving

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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

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

Aug 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...

Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al. · American Journal of Human Ge... · 0 citations