STXBP1 Encephalopathy

STXBP1 Encephalopathy

STXBP1 encephalopathy is a rare genetic disorder characterised by early-onset epilepsy and developmental delay. Mutations in the STXBP1 gene disrupt synaptic functioning, leading to neurological impairments. Symptoms of STXBP1 encephalopathy can include movement disorders, intellectual disability, and behavioural issues. Treatments are mostly symptomatic, aiming to manage seizures and improve quality of life.