STXBP1

More than 150 mutations in the STXBP1 gene have been found to cause STXBP1 encephalopathy. This condition is characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy) that begin in infancy. The STXBP1 gene mutations can alter the structure of syntaxin-binding protein 1, result in an abnormally short protein, or add or delete small sections of the protein.

The gene mutations that cause STXBP1 encephalopathy reduce the amount of functional syntaxin-binding protein 1 produced from the gene. A shortage of this protein impairs the formation of the protein complex that allows vesicle fusion and the release of neurotransmitters from neurons. A change in neurotransmitter levels can lead to uncontrolled activation (excitation) of neurons, which causes seizures. Researchers suspect that a shortage of syntaxin-binding protein 1 also impairs neuron development in certain regions of the brain, which could underlie abnormal brain function and other neurological problems in people with STXBP1 encephalopathy.

MedlinePlus Genetics provides information about Lennox-Gastaut syndrome