Anxiety, especially separation distress, is very common among older children with Angelman syndrome and should be taken into…
Articles by Joana Carvalho, PhD
Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman…
Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and…
For the first time, the occurrence of germline mosaicism — a phenomenon in which a mutation is present only…
The close relationship between synaptic maturation and sleep may be the reason why many children with neurodevelopmental disorders (NDDs), including…
Coffin-Siris syndrome (CSS) should be included in the differential diagnosis of Angelman syndrome, say researchers, after describing the…
Short-term treatment with Neuralstem‘s NSI-189 reversed cognitive and motor impairments in a mouse model of Angelman syndrome, according to study results.
Epileptic seizures caused by disturbances in the activity of a specific type of nerve cell called an inhibitory neuron were prevented…
Researchers from the University of North Carolina have found that ubiquitin protein ligase E3A — the malfunction of which is behind …
Researchers from Harvard Medical School have discovered that a genetic mutation in the UBE3A gene found in Angelman…