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- Erick Sell and Jessica Heymans.
- Departamento de Neurología Pediátrica, Children's Hospital of Eastern Ontario, Canadá. E-mail: esell@cheo.on.ca.
- Medicina (B Aires). 2024 Sep 1; 84 Suppl 3: 152015-20.
AbstractAngelman syndrome is a severe neurodevelopmental disorder secondary to disruption of the UBE3A gene in the maternal allele of chromosome 15. Its manifestations are mainly neurological, but a multidisciplinary management is required for its treatment. There are consensus guidelines available for best clinical management. Current clinical trials with antisense oligonucleotides promise, for the first time, to treat the cause by activating the UBE3A gene in the paternal allele, showing encouraging preliminary clinical effects. Inoculation of UBE3A gene through a viral vector has been tested in animal models and is underway for future clinical trials.
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