Mutations of the Syntaxin binding protein 1 (STXBP1) have been identified in patients with early infantile epileptic encephalopathy 4 (EIEE4). The STXBP1 gene maps to 9q34.1 and has 19 coding exons. Syntaxin binding protein 1, more commonly referred to as MUNC18-1, is a neuron specific protein of the SEC1 family of membrane-trafficking proteins. MUNC18-1 is expressed throughout the brain and is a key component for calcium-dependent neurotransmitter release. Sequencing of STXBP1 detected mutations in 4 out of 106 patients with EIEE. Earlier reports identified 4 heterozygous missense mutations in 13 patients with EIEE. Affected individuals with microdeletions involving STXBP1 have also been reported. Deletions and/or duplications of the STXBP1 gene as causative of epileptic encephalopathy have been reported. STXBP1 deletion/duplication is available as an individual test or as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel. Please see our information sheet for more details.
Specimen Types Accepted
If sending saliva, 2 kits are required.