STXBP1 gene mutation is a rare genetic disorder caused by changes in the STXBP1 gene, disrupting the function of Munc18-1 protein in brain synapse communication. This leads to protein deficiency, causing developmental and epileptic encephalopathy (DEE), early-onset seizures, developmental delay, and movement disorders. It is usually de novo (occurs spontaneously). Clinical symptoms: 1. Epilepsy/seizures 2. Developmental delay 3. Movement disorders Treatment: Currently focuses on symptom manageme
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STXBP1 gene mutation is a rare genetic disorder caused by chang…
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