MEDiscuss • Medical News • Rare disease in Amish children sheds light on common neurological disorders
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Rare disease in Amish children sheds light on common neurological disorders
Researchers 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 demonstrate 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.
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