Structural analysis of de novo STXBP1 mutation in complex with syntaxin 1A reveals a major alteration in the interaction interface in a child with developmental delay and spasticity
Ehud Banne, Tzipora C. Falik Zaccai, Esther S. Brielle, Limor Kalfon, Hagay Ladany, Danielle Klinger, Dina Schneidman‐Duhovny, Michal Linial B
The paper identifies a de novo STXBP1 mutation in a child with developmental delay and spasticity, showing how it disrupts the STXBP1-syntaxin 1A interaction through structural analysis.
American Journal of Medical Genetics Part B Neuropsychiatric Genetics · Aug 19, 2020Peer-reviewedGenetics