Monogenic epilepsy

This study tests whether the drug ganaxolone can reduce seizures in children aged 6 months to 2 years with CDKL5 deficiency disorder, a rare genetic condition causing hard-to-control seizures. Twenty children will receive either ganaxolone or a placebo alongside their usual seizu…

This study tests whether taking a daily hot bath (40-42°C for 20 minutes) at home can reduce epileptic seizures in children with CDKL5 deficiency disorder. The trial will include 34 children aged 6 months to 14 years whose seizures are not controlled by medication. Researchers wi…

This study looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…