Strides in STXBP1 Research: Jan 2026
What was new in January of 2026
Researchers from the University of Michigan published a study which shows that STXBP1 does far more than help neurons release neurotransmitters. In a mouse model, researchers found that the STXBP1 protein is located not only at synapses but also throughout the cell body and dendrites, meaning it has important “non‑synaptic” roles in how neurons grow, stay alive, and organize their internal structure. When STXBP1 was removed from a small number of developing brain cells, those neurons died early, suggesting the protein is essential for basic cell survival, not just communication. Re‑introducing STXBP1, even using some disease‑causing variants, prevented cell death, but the neurons rescued by pathogenic variants still showed abnormal, stunted dendrite growth. The team also discovered that STXBP1 helps traffic key structural proteins (like alpha‑II spectrin and ARPC2/3) to the cell membrane, which is necessary for healthy dendrite formation. Overall, the findings highlight that STXBP1‑related disorders may involve not only from problems with synaptic signaling but also from deeper disruptions in neuronal development, structure, and survival.
A study from the UK compared what parents report about their children’s rare genetic neurodevelopmental conditions compared to what doctors report. Using data from almost 550 children, the study found that parents and doctors provide a similar amount of information, but the type of information differs: parents tend to describe everyday, lived‑experience issues—like feeding problems, constipation, dental issues, asthma, or sleep—while doctors focus on medical details such as MRI findings, seizure types, and specific neurological signs. Doctors generally give more precise, technical descriptions, especially for brain‑related features, while parents contribute richer detail in areas that affect daily life. Overall, information from parents and doctors only partially overlap, with relatively low similarity when compared, though some genes with well‑defined neurological profiles—such as STXBP1—show higher agreement. The study concludes that both perspectives are valuable and complementary, and that both are needed to capture the full picture of a child’s condition.
Physicians from China published a paper describing 19 children with STXBP1-related disorder who were admitted to the hospital between 2020 and 2024. Most of the children showed symptoms within the first month of life, often with multiple seizure types; all the children have significant developmental delays. Genetic testing identified 7 variants in the STXBP1 gene that had previously not been reported. Seizures in the children were difficult to control, with only 5 of the 19 children achieving seizure control.
A study from Turkey looked at a group of children with rare genetic conditions that affect cell trafficking, or how materials, like proteins and fats, move inside of cells like neurons. Even though the children had different genes involved, including one child with a nonsense mutation in STXBP1, they showed many of the same challenges: developmental delays, low muscle tone or stiffness, seizures, and sometimes enlarged organs or immune issues. By examining these shared patterns, the researchers argued that these disorders should be grouped by how the cell’s “transport system” is disrupted rather than by symptoms alone. This approach could help doctors recognize these conditions earlier and guide families toward the right genetic testing and care.
In a separate study from Turkey, researchers reviewed the medical records of more than 3,700 children with drug‑resistant epilepsy and found that modern genetic testing, especially whole‑exome sequencing, greatly improved the chances of finding an underlying cause. About half of the children who received genetic testing had a meaningful, disease‑causing mutation identified, with the most common genes being SCN1A, STXBP1, and CDKL5. Knowing the exact genetic cause matters because it can guide more precise treatments, help avoid unnecessary tests, and support accurate family counseling. The study also showed that many different genes can lead to similar symptoms, which makes clinical diagnosis alone difficult, and highlights why broad genetic testing is becoming essential in managing complex childhood epilepsies.
Periventricular nodular heterotopia (PVNH) is a fairly common condition where groups of neurons fail to move to their proper location in the brain during brain development. This condition can be seen in MRIs and can be associated with epilepsy and cognitive impairment. An Australian group looked at 32 individuals who had a specific type of PVNH and found that 7 had a genetic mutation, including one individual with a mutation in STXBP1. This may be the first time that something like PVNH has been observed in the brain of an STXer.
Researchers from Kazakhstan published a paper reviewing what is known about infantile spasms (IS) and West Syndrome (a type of infantile spasm). Infantile spasms can be caused by many different problems in a baby’s developing brain, including genetic causes like STXBP1. When STXBP1 isn’t working properly, the brain’s signaling becomes disorganized, which can make the developing neuronal networks especially vulnerable to the kinds of disruptions that trigger spasms. The article explains that across many causes, including STXBP1, infantile spasms tend to arise when key developmental pathways and the normal maturation of inhibitory brain cells are thrown off balance. Early treatment with ACTH, steroids, or vigabatrin remains critical, and the growing understanding of genes like STXBP1 is helping move the field toward more personalized, biology‑guided therapies that may improve long‑term development.
A paper from Indian clinicians examined movement disorders in 32 children diagnosed with various genetic developmental epileptic encephalopathies (DEEs), including 3 children with STXBP1. They found a range of different types of movement disorders including stereotypes, dystonia, ataxia, myoclonus, chorea, and tremor. For the majority of the children, the movement disorders were chronic and persistent.
