Research What do families living with Kleefstra Syndrome need? A new study gives parents a voice Katerina Tzimourta, November 20, 2025August 21, 2026 What does it mean in practice to raise a child with Kleefstra Syndrome? How does a family's daily life change when the child needs continuous support? What happens to the parents' employment, family activities, free…
Research Greek study describes two new genetic mutations of EHMT1 and highlights the broad spectrum of Kleefstra syndrome Katerina Tzimourta, August 18, 2025August 20, 2026 Two children with the same diagnosis can have a very different course. In Kleefstra syndrome, this is something families know well in practice, but modern genetic research is now beginning to help us...
Research New clinical study from Boston Children’s Hospital expands the picture of Kleefstra Syndrome Katerina Tzimourta, July 20, 2025August 21, 2026 An important study from the Kleefstra Syndrome Clinic at Boston Children’s Hospital offers one of the most detailed clinical pictures of Kleefstra Syndrome to date and attempts to answer a question that has been concerning here...
Research EEG and Artificial Intelligence in Kleefstra syndrome: what we know and what the next steps are Katerina Tzimourta, June 2, 2025August 20, 2026 In 2025, my review titled “Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions” was published in the scientific journal Sensors. The paper brings together everything we know to date about...
Research New study puts families at the center of Kleefstra Syndrome research Katerina Tzimourta, May 12, 2025August 21, 2026 What should a future treatment for Kleefstra Syndrome change so that it has real significance for a child and their family? Improve a score on a developmental test? Increase the...
Research A 3D human model for studying Kleefstra syndrome Katerina Tzimourta, November 1, 2024August 21, 2026 How can we study in the laboratory what happens in the developing brain when EHMT1 does not function normally? A research team from Hungary created a new three-dimensional human cell model of Kleefstra Syndrome, using cells…