Search results for Angelman Syndrome

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medicalxpress.com /3 weeks ago

Children with rare debilitating brain diseases suffer from mutations in a little-known protein complex

Thousands of times per year, a family's moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny chi...

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genengnews.com /1 month ago

Childhood Dementia Explained by Synaptic Dysfunction, Opens New Therapies

A new study uncovers how hyperactive and dysregulated synaptic circuits emerge in the brain tissue of children impacted by Sanfilippo syndrome, a rare genetic condition that causes...

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medicalxpress.com