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Angelman syndrome: a journey through the brain

22 Feb 2020

Abstract excerpt

Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A gene. AS is characterized by a defined set of symptoms, namely severe developmental delay, speech impairment, uncontrolled laughter, and ataxia. Current understanding of the pathophysiology of AS relies mostly on studies using the murine model of the disease, although alternative models...

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PMID: 32087041
DOI: 10.1111/febs.15258

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