STXBP1 is located on chromosome 9q34.1 and was discovered in 2008 in association with genes responsible for Ohtahara Syndrome. Changes are typically new in families and a single copy of the gene is enough to cause the disorder. The children may display some of these symptoms in varying severities: neonatal epilepsy, Global Delay, Cognitive impairment (mild -profound), Autism, Movement Disorders, and Cerebral Palsy. STXBP1 changes impair the vesicle release of neurotransmitter along the synapses. STXBP1 is one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders
- Key Symptoms – Global Delays are often the first clue other symptoms include: Epilepsy, Autism, Cerebral Palsy, Movement Disorders
- Diagnosis – Genetic testing Exome Sequencing or Epilepsy Panel
- Treatment – Varies based on the symptoms and co-existing disorders
The mutational spectrum of STXBP1. The current figure displays the majority of the mutations reported in the publication by Stamberger and collaborators. The mutations are spread across the STXBP1 gene, but there are a few mutational hotspots (e.g. p.Arg406His – the most common recurrent mutation). Read more from the latest study.