Functional Analyses in Patient‐Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A
Sylvia Korhorn, Additya Sharma, Jan J Sprengers, Shilpa Anand, Jennifer R Ramautar, Klaus Linkenkaer-Hansen, Hilgo Bruining, Ruud F Toonen, Matthijs Verhage, Mala Misra-Isrie, Miklos Sahin -Toth · 2026
Read Functional Analyses in Patient‐Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A by Sylvia Korhorn, Additya Sharma, Jan J Sprengers, Shilpa Anand, Jennifer R Ramautar, Klaus Linkenkaer-Hansen, Hilgo Bruining, Ruud F Toonen, Matthijs Verhage, Mala Misra-Isrie, Miklos Sahin -Toth (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13270418.txt.
Description
Sylvia Korhorn and co-authors published a case report in 2026 on a patient with developmental delay but no seizures, carrying a variant of uncertain significance in the STXBP1 gene. This gene is vital for nerve cell signaling. Neurons grown from the patient's cells were tested to judge whether the variant truly causes disease.
The grown neurons looked normal, yet the gene's protein and message levels were cut by over 40 percent. Tests showed a whole section of the gene message was skipped, creating a premature stop. Brain-wave analysis against typically developing children showed altered rhythms and a reduced excitation-to-inhibition ratio. The combined evidence reclassed the variant as disease-causing, and the patient joined a European registry.
Catalog record
| CREATOR | Sylvia Korhorn, Additya Sharma, Jan J Sprengers, Shilpa Anand, Jennifer R Ramautar, Klaus Linkenkaer-Hansen, Hilgo Bruining, Ruud F Toonen, Matthijs Verhage, Mala Misra-Isrie, Miklos Sahin -Toth |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 43601 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |