Rare Disease in Amish Children Sheds Light on Common Neurological Disorders
Perelman School of Medicine at the University of PennsylvaniaResearchers investigating a regulatory protein involved in a rare genetic disease have shown that it may be related to epileptic and autistic symptoms in other more common neurological disorders. A team of researchers demonstrated how mutations in the STRAD-alpha gene can cause a disease called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy) syndrome, found in a handful of Amish children.