Posts by: Joana Carvalho

News

Spaced training interventions may be used to minimize learning impairments associated with neurological disorders, including Down and Angelman syndrome, a mouse study has found. The results, “Spaced training improves ... Read more

July 29, 2019July 29, 2019

Cannabidiol Reduces Seizures, EEG Abnormalities in AS Mice, Study Finds

News

Treatment with cannabidiol reduces seizures and abnormal electric brain activity in mice with Angelman syndrome (AS), supporting its use as an anti-seizure treatment for patients, a study finds. The ... Read more

July 15, 2019July 15, 2019

Anxiety Common in Older Children and Especially Evident When ‘Preferred’ Caregiver Absent, Study Says

News

Anxiety, especially separation distress, is very common among older children with Angelman syndrome and should be taken into consideration by doctors to improve both their quality of life and ... Read more

June 24, 2019June 24, 2019

20-Year Mystery of Girl with Angelman and 2nd Rare Disease Solved via Genetic Testing

News

Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman syndrome and cholesterol side-chain cleavage enzyme (P450scc) deficiency, by finding ... Read more

June 3, 2019June 3, 2019

Scientists Develop Quick, Accurate Diagnostic Test for Angelman and Prader-Willi Syndromes

News

Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and Prader-Willi syndrome. Their study, “A rapid and accurate methylation‐sensitive high‐resolution melting analysis ... Read more

April 8, 2019April 8, 2019

Germline Mosaicism Linked to Angelman Syndrome in 2 Siblings for 1st Time, Researchers Say

News

For the first time, the occurrence of germline mosaicism — a phenomenon in which a mutation is present only in a progenitors’ sperm or eggs and is passed on ... Read more

February 11, 2019February 11, 2019

Synaptic Dysfunctions May be Linked to Sleep Issues in Patients with Neurodevelopmental Disorders, Review Finds

News

The close relationship between synaptic maturation and sleep may be the reason why many children with neurodevelopmental disorders (NDDs), including Angelman syndrome, experience sleep problems, a review study has ... Read more

January 14, 2019January 14, 2019

Coffin-Siris Syndrome Should be Included in the Differential Diagnosis of Angelman Syndrome, Case Study Says

News

Coffin-Siris syndrome (CSS) should be included in the differential diagnosis of Angelman syndrome, say researchers, after describing the case of a 14-year-old boy who harbored a genetic mutation associated ... Read more

November 16, 2018November 16, 2018

Short-term use of NSI-189 Aids Cognitive and Motor Skills in Angelman Mouse Model, Study Says

News

Short-term treatment with Neuralstem‘s NSI-189 reversed cognitive and motor impairments in a mouse model of Angelman syndrome, according to study results. This early finding could help to pave the way for this compound, in ... Read more

November 9, 2018November 9, 2018

UBE3A Gene Reactivation in Inhibitory Neurons May Prevent Seizures, Angelman Mouse Study Shows

News

Epileptic seizures caused by disturbances in the activity of a specific type of nerve cell called an inhibitory neuron were prevented by the reactivation of the UBE3A gene in young mice with Angelman ... Read more

Posts by: Joana Carvalho

Joana Carvalho

Spaced Training Can Improve Learning in Down, Angelman Patients, Mouse Study Shows

Cannabidiol Reduces Seizures, EEG Abnormalities in AS Mice, Study Finds

Anxiety Common in Older Children and Especially Evident When ‘Preferred’ Caregiver Absent, Study Says

20-Year Mystery of Girl with Angelman and 2nd Rare Disease Solved via Genetic Testing

Scientists Develop Quick, Accurate Diagnostic Test for Angelman and Prader-Willi Syndromes

Germline Mosaicism Linked to Angelman Syndrome in 2 Siblings for 1st Time, Researchers Say

Synaptic Dysfunctions May be Linked to Sleep Issues in Patients with Neurodevelopmental Disorders, Review Finds

Coffin-Siris Syndrome Should be Included in the Differential Diagnosis of Angelman Syndrome, Case Study Says

Short-term use of NSI-189 Aids Cognitive and Motor Skills in Angelman Mouse Model, Study Says

UBE3A Gene Reactivation in Inhibitory Neurons May Prevent Seizures, Angelman Mouse Study Shows

Pin It on Pinterest