A. V. van Berkel

Single cell RNA-sequencing reveals neuron type-specific vulnerabilities in a model of STXBP1-related disorder.

STXBP1-related disorder (STXBP1-RD) is a severe neurodevelopmental disorder caused by de novo heterozygous mutations that lead to STXBP1 haploinsufficiency. STXBP1-RD is characterised by developmental delay, intellectual disability, early-onset seizures and autistic features. EEG analysis suggests excitation-inhibition...