Single-Cell Analysis Reveals Neuron-Specific Effects in STXBP1-Related Neurodevelopmental Disorder
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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.
Rare Case Links X-Linked Ichthyosis to Seizures, ADHD, and Autism Spectrum Disorder in Child
A 10-year-old boy with X-linked ichthyosis exhibited seizures, ADHD, and autism spectrum disorder linked to a genetic deletion affecting the STS gene, highlighting the need for integrated care.