Epileptic encephalopathy is a rare but devastating sub-form of epilepsy that results in severe mental and physical disabilities in children from birth. It is often caused by improper development of the brain.
Researchers linked a debilitating neurological disease in children to mutations in a gene that regulates neuronal development through control of protein movement within neuronal cells.
A team from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators around the world discovered that a severe form of epileptic encephalopathy is caused by recessive loss-of-function mutations in the gene DENND5A.
Their findings were published in the American Journal of Human Genetics.
This glowing neuron above has been genetically modified so it doesn't express the DENND5A protein.