Researchers discover gene mutations that causes paralysis in patients from childhood

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis. Researchers at Duke University Medical Center have now discovered that mutations in one gene cause the disease in the majority of patients with a diagnosis of AHC, and because of the root problem they discovered, a treatment may become possible.

“This kind of discovery really brings home just what the human genome project and next-generation sequencing have made possible,” said David Goldstein, Ph.D., Director of the Duke Center for Human Genome Variation and co-senior author on the study.

View the original article here: Researchers discover gene mutations in patients with alternating hemiplegia of childhood – News-Medical.Net

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