New Cases Expand Understanding of CBX1-Related Neurodevelopmental Syndrome
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Three new cases of CBX1-related syndrome reveal novel gene variants linked to developmental delays and speech impairments, expanding understanding of this rare neurodevelopmental disorder.
Single-Cell Analysis Reveals Neuron-Specific Effects in STXBP1-Related Neurodevelopmental Disorder
A recent study using single-cell RNA sequencing in a mouse model uncovers neuron type-specific gene expression changes linked to STXBP1-related neurodevelopmental disorder, shedding light on the molecular basis of seizures and cognitive symptoms.
DLG4-Related Synaptopathy: Expanding Understanding of Marfan-Like Features in a Rare Neurodevelopmental Disorder
A Brazilian case report highlights the complex symptoms of DLG4-related synaptopathy, a rare neurodevelopmental disorder with marfanoid features and sensory disturbances.