Research New study records the frequency of Kleefstra syndrome features in 172 individuals Katerina Tzimourta, October 24, 2024August 21, 2026 In 2024, Tanja Zdolšek Draksler and her colleagues published a study in the European Journal of Medical Genetics that utilized data from 172 individuals with Kleefstra syndrome (KLEFS1), recorded in the international GenIDA platform. The...
Research Kleefstra syndrome is broader than previously thought: what the largest EHMT1 study in 209 individuals showed Katerina Tzimourta, September 12, 2024August 20, 2026 For many years, the classic description of Kleefstra syndrome was based primarily on individuals with a relatively characteristic clinical picture: developmental delay, moderate to severe intellectual disability, hypotonia, significant speech and communication difficulties, and characteristic...
Research Speech, language and communication in Kleefstra syndrome: what an international study of 103 individuals showed Katerina Tzimourta, June 11, 2024August 21, 2026 Speech delay is one of the features most frequently reported in Kleefstra syndrome. For many years, however, scientific descriptions were limited to general statements such as «severe speech delay,» «limited speech,» or «non-verbal..."
Research Weight, growth and metabolism in Kleefstra syndrome: New study of 62 individuals Katerina Tzimourta, May 19, 2024August 20, 2026 Kleefstra syndrome is known primarily as a neurodevelopmental disorder. Hypotonia, developmental delay, communication difficulties, and intellectual disability are usually at the center of both clinical follow-up and discussion with…
Research Arrhythmias and atrial fibrillation in Kleefstra syndrome Katerina Tzimourta, January 17, 2024August 21, 2026 An important study published in the scientific journal Europace has brought to light an aspect of Kleefstra Syndrome that until now had not been systematically studied. The possibility of arrhythmias, even in young individuals who do not...
Research New study from Italy on epilepsy in Kleefstra Syndrome Katerina Tzimourta, 12 October 2023August 21, 2026 Epilepsy is known to occur in individuals with Kleefstra syndrome. For many years, however, most publications were limited to reporting epileptic seizures as just another potential feature of the syndrome, without...