Genetic cause found for a rare epileptic encephalopathy скачать в хорошем качестве

Genetic cause found for a rare epileptic encephalopathy

In a recent study, scientists analyzed clinical information on people with a rare form of developmental and epileptic encephalopathy, a condition marked by altered brain development, developmental delay and debilitating seizures. The participants had mutations in DENND5A, a gene previously linked with epileptic encephalopathy. By growing stem cells in a dish, the scientists found that the mutations alter the function of DENND5A, and that this dysfunction stops brain cells from dividing properly during development. The result is a developing brain with less stem cells, shortening the crucial time period that the brain forms during in eutero development. Here, Kelly Cervantes, the mother of one of the participants, describes what it's like to finally know what caused her daughter's condition. Learn more: https://www.mcgill.ca/neuro/article/r... #neurologicaldisease #rarediseases #neurology #neuroscience